Name: rs2274223
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs2274223

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr10:94306584 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: A>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.322465 (101407/314474, ALFA)
G=0.313015 (82852/264690, TOPMED)
G=0.281677 (70230/249328, GnomAD_exome) (+ 28 more)
G=0.312016 (43691/140028, GnomAD)
G=0.284556 (34355/120732, ExAC)
G=0.29655 (23336/78692, PAGE_STUDY)
G=0.24896 (7035/28258, 14KJPN)
G=0.25060 (4200/16760, 8.3KJPN)
G=0.31859 (3941/12370, GO-ESP)
G=0.3028 (1939/6404, 1000G_30x)
G=0.2985 (1495/5008, 1000G)
G=0.3417 (1531/4480, Estonian)
G=0.2932 (1130/3854, ALSPAC)
G=0.3093 (1147/3708, TWINSUK)
G=0.2502 (733/2930, KOREAN)
G=0.3033 (632/2084, HGDP_Stanford)
G=0.3316 (624/1882, HapMap)
G=0.2615 (479/1832, Korea1K)
G=0.3263 (370/1134, Daghestan)
G=0.313 (312/998, GoNL)
G=0.220 (173/786, PRJEB37584)
G=0.179 (112/626, Chileans)
G=0.308 (188/610, Vietnamese)
G=0.272 (163/600, NorthernSweden)
G=0.307 (164/534, MGP)
G=0.240 (73/304, FINRISK)
A=0.388 (104/268, SGDP_PRJ)
G=0.440 (95/216, Qatari)
G=0.48 (22/46, Ancient Sardinia)
G=0.28 (11/40, GENOME_DK)
A=0.36 (10/28, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: PLCE1 : Missense Variant
Publications: 72 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	330816	A=0.677830	G=0.322170
European	Sub	275528	A=0.675093	G=0.324907
African	Sub	16428	A=0.64914	G=0.35086
African Others	Sub	554	A=0.657	G=0.343
African American	Sub	15874	A=0.64886	G=0.35114
Asian	Sub	3864	A=0.7769	G=0.2231
East Asian	Sub	2464	A=0.7833	G=0.2167
Other Asian	Sub	1400	A=0.7657	G=0.2343
Latin American 1	Sub	1284	A=0.6682	G=0.3318
Latin American 2	Sub	5016	A=0.8024	G=0.1976
South Asian	Sub	5060	A=0.7073	G=0.2927
Other	Sub	23636	A=0.68125	G=0.31875

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	314474	A=0.677535	G=0.322465
Allele Frequency Aggregator	European	Sub	265468	A=0.674303	G=0.325697
Allele Frequency Aggregator	Other	Sub	22190	A=0.68179	G=0.31821
Allele Frequency Aggregator	African	Sub	11592	A=0.64424	G=0.35576
Allele Frequency Aggregator	South Asian	Sub	5060	A=0.7073	G=0.2927
Allele Frequency Aggregator	Latin American 2	Sub	5016	A=0.8024	G=0.1976
Allele Frequency Aggregator	Asian	Sub	3864	A=0.7769	G=0.2231
Allele Frequency Aggregator	Latin American 1	Sub	1284	A=0.6682	G=0.3318
TopMed	Global	Study-wide	264690	A=0.686985	G=0.313015
gnomAD - Exomes	Global	Study-wide	249328	A=0.718323	G=0.281677
gnomAD - Exomes	European	Sub	134630	A=0.703699	G=0.296301
gnomAD - Exomes	Asian	Sub	48574	A=0.73716	G=0.26284
gnomAD - Exomes	American	Sub	34524	A=0.83105	G=0.16895
gnomAD - Exomes	African	Sub	15488	A=0.64992	G=0.35008
gnomAD - Exomes	Ashkenazi Jewish	Sub	10060	A=0.56342	G=0.43658
gnomAD - Exomes	Other	Sub	6052	A=0.6819	G=0.3181
gnomAD - Genomes	Global	Study-wide	140028	A=0.687984	G=0.312016
gnomAD - Genomes	European	Sub	75866	A=0.69799	G=0.30201
gnomAD - Genomes	African	Sub	41922	A=0.65591	G=0.34409
gnomAD - Genomes	American	Sub	13640	A=0.74538	G=0.25462
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	A=0.5476	G=0.4524
gnomAD - Genomes	East Asian	Sub	3128	A=0.7756	G=0.2244
gnomAD - Genomes	Other	Sub	2152	A=0.6854	G=0.3146
ExAC	Global	Study-wide	120732	A=0.715444	G=0.284556
ExAC	Europe	Sub	73352	A=0.69937	G=0.30063
ExAC	Asian	Sub	25102	A=0.73225	G=0.26775
ExAC	American	Sub	11568	A=0.83973	G=0.16027
ExAC	African	Sub	9810	A=0.6481	G=0.3519
ExAC	Other	Sub	900	A=0.693	G=0.307
The PAGE Study	Global	Study-wide	78692	A=0.70345	G=0.29655
The PAGE Study	AfricanAmerican	Sub	32510	A=0.65561	G=0.34439
The PAGE Study	Mexican	Sub	10806	A=0.80520	G=0.19480
The PAGE Study	Asian	Sub	8318	A=0.7575	G=0.2425
The PAGE Study	PuertoRican	Sub	7918	A=0.6782	G=0.3218
The PAGE Study	NativeHawaiian	Sub	4534	A=0.6870	G=0.3130
The PAGE Study	Cuban	Sub	4230	A=0.6660	G=0.3340
The PAGE Study	Dominican	Sub	3828	A=0.6821	G=0.3179
The PAGE Study	CentralAmerican	Sub	2450	A=0.8049	G=0.1951
The PAGE Study	SouthAmerican	Sub	1982	A=0.8118	G=0.1882
The PAGE Study	NativeAmerican	Sub	1260	A=0.7405	G=0.2595
The PAGE Study	SouthAsian	Sub	856	A=0.716	G=0.284
14KJPN	JAPANESE	Study-wide	28258	A=0.75104	G=0.24896
8.3KJPN	JAPANESE	Study-wide	16760	A=0.74940	G=0.25060
GO Exome Sequencing Project	Global	Study-wide	12370	A=0.68141	G=0.31859
GO Exome Sequencing Project	European American	Sub	8344	A=0.6889	G=0.3111
GO Exome Sequencing Project	African American	Sub	4026	A=0.6659	G=0.3341
1000Genomes_30x	Global	Study-wide	6404	A=0.6972	G=0.3028
1000Genomes_30x	African	Sub	1786	A=0.6193	G=0.3807
1000Genomes_30x	Europe	Sub	1266	A=0.6556	G=0.3444
1000Genomes_30x	South Asian	Sub	1202	A=0.7163	G=0.2837
1000Genomes_30x	East Asian	Sub	1170	A=0.7624	G=0.2376
1000Genomes_30x	American	Sub	980	A=0.792	G=0.208
1000Genomes	Global	Study-wide	5008	A=0.7015	G=0.2985
1000Genomes	African	Sub	1322	A=0.6203	G=0.3797
1000Genomes	East Asian	Sub	1008	A=0.7609	G=0.2391
1000Genomes	Europe	Sub	1006	A=0.6620	G=0.3380
1000Genomes	South Asian	Sub	978	A=0.730	G=0.270
1000Genomes	American	Sub	694	A=0.787	G=0.213
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.6583	G=0.3417
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.7068	G=0.2932
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.6907	G=0.3093
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.7498	G=0.2502
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	A=0.6967	G=0.3033
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.760	G=0.240
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.681	G=0.319
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.574	G=0.426
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.706	G=0.294
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.492	G=0.508
HGDP-CEPH-db Supplement 1	America	Sub	216	A=1.000	G=0.000
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.71	G=0.29
HapMap	Global	Study-wide	1882	A=0.6684	G=0.3316
HapMap	American	Sub	770	A=0.726	G=0.274
HapMap	African	Sub	688	A=0.570	G=0.430
HapMap	Asian	Sub	248	A=0.810	G=0.190
HapMap	Europe	Sub	176	A=0.602	G=0.398
Korean Genome Project	KOREAN	Study-wide	1832	A=0.7385	G=0.2615
Genome-wide autozygosity in Daghestan	Global	Study-wide	1134	A=0.6737	G=0.3263
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	A=0.707	G=0.293
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	A=0.569	G=0.431
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	A=0.639	G=0.361
Genome-wide autozygosity in Daghestan	Europe	Sub	108	A=0.611	G=0.389
Genome-wide autozygosity in Daghestan	South Asian	Sub	96	A=0.74	G=0.26
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	A=0.64	G=0.36
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.687	G=0.313
CNV burdens in cranial meningiomas	Global	Study-wide	786	A=0.780	G=0.220
CNV burdens in cranial meningiomas	CRM	Sub	786	A=0.780	G=0.220
Chileans	Chilean	Study-wide	626	A=0.821	G=0.179
A Vietnamese Genetic Variation Database	Global	Study-wide	610	A=0.692	G=0.308
Northern Sweden	ACPOP	Study-wide	600	A=0.728	G=0.272
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	A=0.693	G=0.307
FINRISK	Finnish from FINRISK project	Study-wide	304	A=0.760	G=0.240
SGDP_PRJ	Global	Study-wide	268	A=0.388	G=0.612
Qatari	Global	Study-wide	216	A=0.560	G=0.440
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	46	A=0.52	G=0.48
The Danish reference pan genome	Danish	Study-wide	40	A=0.72	G=0.28
Siberian	Global	Study-wide	28	A=0.36	G=0.64

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 10	NC_000010.11:g.94306584A>G
GRCh37.p13 chr 10	NC_000010.10:g.96066341A>G
PLCE1 RefSeqGene	NG_015799.1:g.317596A>G

Gene: PLCE1, phospholipase C epsilon 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PLCE1 transcript variant 2	NM_001165979.2:c.4856A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform 2	NP_001159451.1:p.His1619A… NP_001159451.1:p.His1619Arg	H (His) > R (Arg)	Missense Variant
PLCE1 transcript variant 3	NM_001288989.2:c.5732A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform 3	NP_001275918.1:p.His1911A… NP_001275918.1:p.His1911Arg	H (His) > R (Arg)	Missense Variant
PLCE1 transcript variant 1	NM_016341.4:c.5780A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform 1	NP_057425.3:p.His1927Arg	H (His) > R (Arg)	Missense Variant
PLCE1 transcript variant X28	XM_011539851.4:c.	N/A	Genic Downstream Transcript Variant
PLCE1 transcript variant X29	XM_011539852.4:c.	N/A	Genic Downstream Transcript Variant
PLCE1 transcript variant X1	XM_017016311.3:c.5822A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X1	XP_016871800.1:p.His1941A… XP_016871800.1:p.His1941Arg	H (His) > R (Arg)	Missense Variant
PLCE1 transcript variant X2	XM_006717885.5:c.5822A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X1	XP_006717948.1:p.His1941A… XP_006717948.1:p.His1941Arg	H (His) > R (Arg)	Missense Variant
PLCE1 transcript variant X3	XM_047425284.1:c.5822A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X1	XP_047281240.1:p.His1941A… XP_047281240.1:p.His1941Arg	H (His) > R (Arg)	Missense Variant
PLCE1 transcript variant X4	XM_047425285.1:c.5822A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X1	XP_047281241.1:p.His1941A… XP_047281241.1:p.His1941Arg	H (His) > R (Arg)	Missense Variant
PLCE1 transcript variant X5	XM_047425286.1:c.5822A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X1	XP_047281242.1:p.His1941A… XP_047281242.1:p.His1941Arg	H (His) > R (Arg)	Missense Variant
PLCE1 transcript variant X6	XM_047425287.1:c.5822A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X1	XP_047281243.1:p.His1941A… XP_047281243.1:p.His1941Arg	H (His) > R (Arg)	Missense Variant
PLCE1 transcript variant X7	XM_017016310.3:c.5822A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X1	XP_016871799.1:p.His1941A… XP_016871799.1:p.His1941Arg	H (His) > R (Arg)	Missense Variant
PLCE1 transcript variant X8	XM_006717888.5:c.5819A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X2	XP_006717951.1:p.His1940A… XP_006717951.1:p.His1940Arg	H (His) > R (Arg)	Missense Variant
PLCE1 transcript variant X9	XM_047425288.1:c.5819A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X2	XP_047281244.1:p.His1940A… XP_047281244.1:p.His1940Arg	H (His) > R (Arg)	Missense Variant
PLCE1 transcript variant X10	XM_047425289.1:c.5780A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X3	XP_047281245.1:p.His1927A… XP_047281245.1:p.His1927Arg	H (His) > R (Arg)	Missense Variant
PLCE1 transcript variant X11	XM_047425290.1:c.5780A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X3	XP_047281246.1:p.His1927A… XP_047281246.1:p.His1927Arg	H (His) > R (Arg)	Missense Variant
PLCE1 transcript variant X12	XM_047425291.1:c.5780A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X3	XP_047281247.1:p.His1927A… XP_047281247.1:p.His1927Arg	H (His) > R (Arg)	Missense Variant
PLCE1 transcript variant X13	XM_047425292.1:c.5780A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X3	XP_047281248.1:p.His1927A… XP_047281248.1:p.His1927Arg	H (His) > R (Arg)	Missense Variant
PLCE1 transcript variant X14	XM_047425293.1:c.5780A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X3	XP_047281249.1:p.His1927A… XP_047281249.1:p.His1927Arg	H (His) > R (Arg)	Missense Variant
PLCE1 transcript variant X15	XM_047425294.1:c.5780A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X3	XP_047281250.1:p.His1927A… XP_047281250.1:p.His1927Arg	H (His) > R (Arg)	Missense Variant
PLCE1 transcript variant X16	XM_047425295.1:c.5774A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X4	XP_047281251.1:p.His1925A… XP_047281251.1:p.His1925Arg	H (His) > R (Arg)	Missense Variant
PLCE1 transcript variant X17	XM_047425296.1:c.5774A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X4	XP_047281252.1:p.His1925A… XP_047281252.1:p.His1925Arg	H (His) > R (Arg)	Missense Variant
PLCE1 transcript variant X18	XM_047425297.1:c.5732A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X5	XP_047281253.1:p.His1911A… XP_047281253.1:p.His1911Arg	H (His) > R (Arg)	Missense Variant
PLCE1 transcript variant X19	XM_047425298.1:c.5732A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X5	XP_047281254.1:p.His1911A… XP_047281254.1:p.His1911Arg	H (His) > R (Arg)	Missense Variant
PLCE1 transcript variant X20	XM_047425299.1:c.5732A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X5	XP_047281255.1:p.His1911A… XP_047281255.1:p.His1911Arg	H (His) > R (Arg)	Missense Variant
PLCE1 transcript variant X21	XM_047425300.1:c.5732A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X5	XP_047281256.1:p.His1911A… XP_047281256.1:p.His1911Arg	H (His) > R (Arg)	Missense Variant
PLCE1 transcript variant X22	XM_006717890.4:c.4898A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X6	XP_006717953.1:p.His1633A… XP_006717953.1:p.His1633Arg	H (His) > R (Arg)	Missense Variant
PLCE1 transcript variant X23	XM_047425301.1:c.4856A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X7	XP_047281257.1:p.His1619A… XP_047281257.1:p.His1619Arg	H (His) > R (Arg)	Missense Variant
PLCE1 transcript variant X24	XM_047425302.1:c.4850A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X8	XP_047281258.1:p.His1617A… XP_047281258.1:p.His1617Arg	H (His) > R (Arg)	Missense Variant
PLCE1 transcript variant X25	XM_017016312.3:c.4808A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X9	XP_016871801.1:p.His1603A… XP_016871801.1:p.His1603Arg	H (His) > R (Arg)	Missense Variant
PLCE1 transcript variant X26	XM_011539850.4:c.4667A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X10	XP_011538152.1:p.His1556A… XP_011538152.1:p.His1556Arg	H (His) > R (Arg)	Missense Variant
PLCE1 transcript variant X27	XM_047425303.1:c.4625A>G	H [CAC] > R [CGC]	Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X11	XP_047281259.1:p.His1542A… XP_047281259.1:p.His1542Arg	H (His) > R (Arg)	Missense Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: G (allele ID: 253945 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000250112.3	not specified	Benign
RCV000605587.6	Nephrotic syndrome, type 3	Benign
RCV001683082.4	not provided	Benign

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	A=	G
GRCh38.p14 chr 10	NC_000010.11:g.94306584=	NC_000010.11:g.94306584A>G
GRCh37.p13 chr 10	NC_000010.10:g.96066341=	NC_000010.10:g.96066341A>G
PLCE1 RefSeqGene	NG_015799.1:g.317596=	NG_015799.1:g.317596A>G
PLCE1 transcript variant 1	NM_016341.4:c.5780=	NM_016341.4:c.5780A>G
PLCE1 transcript variant 1	NM_016341.3:c.5780=	NM_016341.3:c.5780A>G
PLCE1 transcript variant 3	NM_001288989.2:c.5732=	NM_001288989.2:c.5732A>G
PLCE1 transcript variant 3	NM_001288989.1:c.5732=	NM_001288989.1:c.5732A>G
PLCE1 transcript variant 2	NM_001165979.2:c.4856=	NM_001165979.2:c.4856A>G
PLCE1 transcript variant 2	NM_001165979.1:c.4856=	NM_001165979.1:c.4856A>G
PLCE1 transcript variant X2	XM_006717885.5:c.5822=	XM_006717885.5:c.5822A>G
PLCE1 transcript variant X1	XM_006717885.4:c.5822=	XM_006717885.4:c.5822A>G
PLCE1 transcript variant X1	XM_006717885.3:c.5822=	XM_006717885.3:c.5822A>G
PLCE1 transcript variant X1	XM_006717885.2:c.5822=	XM_006717885.2:c.5822A>G
PLCE1 transcript variant X1	XM_006717885.1:c.5822=	XM_006717885.1:c.5822A>G
PLCE1 transcript variant X8	XM_006717888.5:c.5819=	XM_006717888.5:c.5819A>G
PLCE1 transcript variant X5	XM_006717888.4:c.5819=	XM_006717888.4:c.5819A>G
PLCE1 transcript variant X5	XM_006717888.3:c.5819=	XM_006717888.3:c.5819A>G
PLCE1 transcript variant X4	XM_006717888.2:c.5819=	XM_006717888.2:c.5819A>G
PLCE1 transcript variant X4	XM_006717888.1:c.5819=	XM_006717888.1:c.5819A>G
PLCE1 transcript variant X22	XM_006717890.4:c.4898=	XM_006717890.4:c.4898A>G
PLCE1 transcript variant X7	XM_006717890.3:c.4898=	XM_006717890.3:c.4898A>G
PLCE1 transcript variant X7	XM_006717890.2:c.4898=	XM_006717890.2:c.4898A>G
PLCE1 transcript variant X6	XM_006717890.1:c.4898=	XM_006717890.1:c.4898A>G
PLCE1 transcript variant X26	XM_011539850.4:c.4667=	XM_011539850.4:c.4667A>G
PLCE1 transcript variant X9	XM_011539850.3:c.4667=	XM_011539850.3:c.4667A>G
PLCE1 transcript variant X9	XM_011539850.2:c.4667=	XM_011539850.2:c.4667A>G
PLCE1 transcript variant X7	XM_011539850.1:c.4667=	XM_011539850.1:c.4667A>G
PLCE1 transcript variant X7	XM_017016310.3:c.5822=	XM_017016310.3:c.5822A>G
PLCE1 transcript variant X3	XM_017016310.2:c.5822=	XM_017016310.2:c.5822A>G
PLCE1 transcript variant X3	XM_017016310.1:c.5822=	XM_017016310.1:c.5822A>G
PLCE1 transcript variant X25	XM_017016312.3:c.4808=	XM_017016312.3:c.4808A>G
PLCE1 transcript variant X8	XM_017016312.2:c.4808=	XM_017016312.2:c.4808A>G
PLCE1 transcript variant X8	XM_017016312.1:c.4808=	XM_017016312.1:c.4808A>G
PLCE1 transcript variant X1	XM_017016311.3:c.5822=	XM_017016311.3:c.5822A>G
PLCE1 transcript variant X4	XM_017016311.2:c.5822=	XM_017016311.2:c.5822A>G
PLCE1 transcript variant X4	XM_017016311.1:c.5822=	XM_017016311.1:c.5822A>G
PLCE1 transcript variant X4	XM_047425285.1:c.5822=	XM_047425285.1:c.5822A>G
PLCE1 transcript variant X10	XM_047425289.1:c.5780=	XM_047425289.1:c.5780A>G
PLCE1 transcript variant X18	XM_047425297.1:c.5732=	XM_047425297.1:c.5732A>G
PLCE1 transcript variant X6	XM_047425287.1:c.5822=	XM_047425287.1:c.5822A>G
PLCE1 transcript variant X5	XM_047425286.1:c.5822=	XM_047425286.1:c.5822A>G
PLCE1 transcript variant X11	XM_047425290.1:c.5780=	XM_047425290.1:c.5780A>G
PLCE1 transcript variant X20	XM_047425299.1:c.5732=	XM_047425299.1:c.5732A>G
PLCE1 transcript variant X3	XM_047425284.1:c.5822=	XM_047425284.1:c.5822A>G
PLCE1 transcript variant X16	XM_047425295.1:c.5774=	XM_047425295.1:c.5774A>G
PLCE1 transcript variant X12	XM_047425291.1:c.5780=	XM_047425291.1:c.5780A>G
PLCE1 transcript variant X17	XM_047425296.1:c.5774=	XM_047425296.1:c.5774A>G
PLCE1 transcript variant X19	XM_047425298.1:c.5732=	XM_047425298.1:c.5732A>G
PLCE1 transcript variant X24	XM_047425302.1:c.4850=	XM_047425302.1:c.4850A>G
PLCE1 transcript variant X15	XM_047425294.1:c.5780=	XM_047425294.1:c.5780A>G
PLCE1 transcript variant X9	XM_047425288.1:c.5819=	XM_047425288.1:c.5819A>G
PLCE1 transcript variant X13	XM_047425292.1:c.5780=	XM_047425292.1:c.5780A>G
PLCE1 transcript variant X27	XM_047425303.1:c.4625=	XM_047425303.1:c.4625A>G
PLCE1 transcript variant X14	XM_047425293.1:c.5780=	XM_047425293.1:c.5780A>G
PLCE1 transcript variant X21	XM_047425300.1:c.5732=	XM_047425300.1:c.5732A>G
PLCE1 transcript variant X23	XM_047425301.1:c.4856=	XM_047425301.1:c.4856A>G
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform 1	NP_057425.3:p.His1927=	NP_057425.3:p.His1927Arg
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform 3	NP_001275918.1:p.His1911=	NP_001275918.1:p.His1911Arg
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform 2	NP_001159451.1:p.His1619=	NP_001159451.1:p.His1619Arg
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X1	XP_006717948.1:p.His1941=	XP_006717948.1:p.His1941Arg
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X2	XP_006717951.1:p.His1940=	XP_006717951.1:p.His1940Arg
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X6	XP_006717953.1:p.His1633=	XP_006717953.1:p.His1633Arg
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X10	XP_011538152.1:p.His1556=	XP_011538152.1:p.His1556Arg
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X1	XP_016871799.1:p.His1941=	XP_016871799.1:p.His1941Arg
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X9	XP_016871801.1:p.His1603=	XP_016871801.1:p.His1603Arg
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X1	XP_016871800.1:p.His1941=	XP_016871800.1:p.His1941Arg
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X1	XP_047281241.1:p.His1941=	XP_047281241.1:p.His1941Arg
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X3	XP_047281245.1:p.His1927=	XP_047281245.1:p.His1927Arg
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X5	XP_047281253.1:p.His1911=	XP_047281253.1:p.His1911Arg
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X1	XP_047281243.1:p.His1941=	XP_047281243.1:p.His1941Arg
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X1	XP_047281242.1:p.His1941=	XP_047281242.1:p.His1941Arg
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X3	XP_047281246.1:p.His1927=	XP_047281246.1:p.His1927Arg
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X5	XP_047281255.1:p.His1911=	XP_047281255.1:p.His1911Arg
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X1	XP_047281240.1:p.His1941=	XP_047281240.1:p.His1941Arg
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X4	XP_047281251.1:p.His1925=	XP_047281251.1:p.His1925Arg
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X3	XP_047281247.1:p.His1927=	XP_047281247.1:p.His1927Arg
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X4	XP_047281252.1:p.His1925=	XP_047281252.1:p.His1925Arg
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X5	XP_047281254.1:p.His1911=	XP_047281254.1:p.His1911Arg
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X8	XP_047281258.1:p.His1617=	XP_047281258.1:p.His1617Arg
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X3	XP_047281250.1:p.His1927=	XP_047281250.1:p.His1927Arg
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X2	XP_047281244.1:p.His1940=	XP_047281244.1:p.His1940Arg
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X3	XP_047281248.1:p.His1927=	XP_047281248.1:p.His1927Arg
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X11	XP_047281259.1:p.His1542=	XP_047281259.1:p.His1542Arg
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X3	XP_047281249.1:p.His1927=	XP_047281249.1:p.His1927Arg
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X5	XP_047281256.1:p.His1911=	XP_047281256.1:p.His1911Arg
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X7	XP_047281257.1:p.His1619=	XP_047281257.1:p.His1619Arg

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

183 SubSNP, 31 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss3209933	Sep 28, 2001 (100)
2	SC_SNP	ss16068086	Feb 27, 2004 (120)
3	PERLEGEN	ss24553145	Sep 20, 2004 (123)
4	ILLUMINA	ss65726460	Oct 14, 2006 (127)
5	AFFY	ss65985559	Nov 29, 2006 (127)
6	AFFY	ss66365616	Nov 29, 2006 (127)
7	ILLUMINA	ss66556613	Nov 29, 2006 (127)
8	ILLUMINA	ss67240333	Nov 29, 2006 (127)
9	ILLUMINA	ss67636964	Nov 29, 2006 (127)
10	CSHL-HAPMAP	ss68423415	Jan 12, 2007 (127)
11	PERLEGEN	ss69088087	May 16, 2007 (127)
12	ILLUMINA	ss70718673	May 24, 2008 (130)
13	ILLUMINA	ss71286885	May 16, 2007 (127)
14	ILLUMINA	ss75678128	Dec 07, 2007 (129)
15	AFFY	ss76087882	Dec 08, 2007 (130)
16	SI_EXO	ss76892790	Dec 07, 2007 (129)
17	ILLUMINA	ss79125156	Dec 14, 2007 (130)
18	HGSV	ss82784281	Dec 14, 2007 (130)
19	KRIBB_YJKIM	ss84015953	Dec 14, 2007 (130)
20	HGSV	ss85285709	Dec 14, 2007 (130)
21	CORNELL	ss86241063	Mar 23, 2008 (129)
22	CANCER-GENOME	ss86347196	Mar 23, 2008 (129)
23	HUMANGENOME_JCVI	ss97675301	Feb 04, 2009 (130)
24	BGI	ss106695831	Feb 04, 2009 (130)
25	1000GENOMES	ss113670535	Jan 25, 2009 (130)
26	ILLUMINA	ss121977271	Dec 01, 2009 (131)
27	ENSEMBL	ss142584842	Dec 01, 2009 (131)
28	ILLUMINA	ss153897391	Dec 01, 2009 (131)
29	ILLUMINA	ss159375233	Dec 01, 2009 (131)
30	SEATTLESEQ	ss159721097	Dec 01, 2009 (131)
31	ILLUMINA	ss160525809	Dec 01, 2009 (131)
32	COMPLETE_GENOMICS	ss168687084	Jul 04, 2010 (132)
33	COMPLETE_GENOMICS	ss170773270	Jul 04, 2010 (132)
34	ILLUMINA	ss171144462	Jul 04, 2010 (132)
35	AFFY	ss172460194	Jul 04, 2010 (132)
36	ILLUMINA	ss173235428	Jul 04, 2010 (132)
37	COMPLETE_GENOMICS	ss174702201	Jul 04, 2010 (132)
38	BUSHMAN	ss201882115	Jul 04, 2010 (132)
39	1000GENOMES	ss224882896	Jul 14, 2010 (132)
40	1000GENOMES	ss235291656	Jul 15, 2010 (132)
41	1000GENOMES	ss241975079	Jul 15, 2010 (132)
42	GMI	ss280731282	May 04, 2012 (137)
43	GMI	ss286243536	Apr 25, 2013 (138)
44	PJP	ss290908753	May 09, 2011 (134)
45	ILLUMINA	ss480498084	May 04, 2012 (137)
46	ILLUMINA	ss480512442	May 04, 2012 (137)
47	ILLUMINA	ss481317512	Sep 08, 2015 (146)
48	ILLUMINA	ss485046540	May 04, 2012 (137)
49	1000GENOMES	ss491001478	May 04, 2012 (137)
50	EXOME_CHIP	ss491438518	May 04, 2012 (137)
51	CLINSEQ_SNP	ss491629815	May 04, 2012 (137)
52	ILLUMINA	ss537066625	Sep 08, 2015 (146)
53	TISHKOFF	ss562141398	Apr 25, 2013 (138)
54	SSMP	ss657180107	Apr 25, 2013 (138)
55	NHLBI-ESP	ss712959858	Apr 25, 2013 (138)
56	ILLUMINA	ss778488996	Sep 08, 2015 (146)
57	ILLUMINA	ss780888934	Sep 08, 2015 (146)
58	ILLUMINA	ss782969491	Sep 08, 2015 (146)
59	ILLUMINA	ss783575178	Sep 08, 2015 (146)
60	ILLUMINA	ss783931149	Sep 08, 2015 (146)
61	ILLUMINA	ss825455674	Jul 19, 2016 (147)
62	ILLUMINA	ss832225801	Sep 08, 2015 (146)
63	ILLUMINA	ss832887042	Jul 13, 2019 (153)
64	ILLUMINA	ss833944971	Sep 08, 2015 (146)
65	JMKIDD_LAB	ss974475576	Aug 21, 2014 (142)
66	EVA-GONL	ss987801038	Aug 21, 2014 (142)
67	JMKIDD_LAB	ss1067514878	Aug 21, 2014 (142)
68	JMKIDD_LAB	ss1077213209	Aug 21, 2014 (142)
69	1000GENOMES	ss1338610111	Aug 21, 2014 (142)
70	HAMMER_LAB	ss1397589375	Sep 08, 2015 (146)
71	DDI	ss1426410501	Apr 01, 2015 (144)
72	EVA_GENOME_DK	ss1575295559	Apr 01, 2015 (144)
73	EVA_FINRISK	ss1584069441	Apr 01, 2015 (144)
74	EVA_DECODE	ss1597474341	Apr 01, 2015 (144)
75	EVA_UK10K_ALSPAC	ss1625189233	Apr 01, 2015 (144)
76	EVA_UK10K_TWINSUK	ss1668183266	Apr 01, 2015 (144)
77	EVA_EXAC	ss1690009105	Apr 01, 2015 (144)
78	EVA_MGP	ss1711265613	Apr 01, 2015 (144)
79	EVA_SVP	ss1713202457	Apr 01, 2015 (144)
80	ILLUMINA	ss1751988089	Sep 08, 2015 (146)
81	ILLUMINA	ss1751988090	Sep 08, 2015 (146)
82	HAMMER_LAB	ss1806519780	Sep 08, 2015 (146)
83	ILLUMINA	ss1917849749	Feb 12, 2016 (147)
84	WEILL_CORNELL_DGM	ss1931167144	Feb 12, 2016 (147)
85	ILLUMINA	ss1946289649	Feb 12, 2016 (147)
86	ILLUMINA	ss1959284711	Feb 12, 2016 (147)
87	JJLAB	ss2026312318	Sep 14, 2016 (149)
88	USC_VALOUEV	ss2154588639	Nov 08, 2017 (151)
89	HUMAN_LONGEVITY	ss2177121764	Dec 20, 2016 (150)
90	SYSTEMSBIOZJU	ss2627624951	Nov 08, 2017 (151)
91	ILLUMINA	ss2632748054	Nov 08, 2017 (151)
92	ILLUMINA	ss2632748055	Nov 08, 2017 (151)
93	ILLUMINA	ss2632748056	Nov 08, 2017 (151)
94	GRF	ss2698841226	Nov 08, 2017 (151)
95	ILLUMINA	ss2710717459	Nov 08, 2017 (151)
96	GNOMAD	ss2738416423	Nov 08, 2017 (151)
97	GNOMAD	ss2748440296	Nov 08, 2017 (151)
98	GNOMAD	ss2892090901	Nov 08, 2017 (151)
99	AFFY	ss2984919886	Nov 08, 2017 (151)
100	AFFY	ss2985568248	Nov 08, 2017 (151)
101	SWEGEN	ss3006960559	Nov 08, 2017 (151)
102	ILLUMINA	ss3021264630	Nov 08, 2017 (151)
103	EVA_SAMSUNG_MC	ss3023065712	Nov 08, 2017 (151)
104	BIOINF_KMB_FNS_UNIBA	ss3026946301	Nov 08, 2017 (151)
105	CSHL	ss3349260145	Nov 08, 2017 (151)
106	ILLUMINA	ss3626509334	Oct 12, 2018 (152)
107	ILLUMINA	ss3626509335	Oct 12, 2018 (152)
108	ILLUMINA	ss3630771353	Oct 12, 2018 (152)
109	ILLUMINA	ss3632960208	Oct 12, 2018 (152)
110	ILLUMINA	ss3633657848	Oct 12, 2018 (152)
111	ILLUMINA	ss3634417637	Oct 12, 2018 (152)
112	ILLUMINA	ss3634417638	Oct 12, 2018 (152)
113	ILLUMINA	ss3635350129	Oct 12, 2018 (152)
114	ILLUMINA	ss3636101373	Oct 12, 2018 (152)
115	ILLUMINA	ss3637100832	Oct 12, 2018 (152)
116	ILLUMINA	ss3637867039	Oct 12, 2018 (152)
117	ILLUMINA	ss3638949380	Oct 12, 2018 (152)
118	ILLUMINA	ss3639474737	Oct 12, 2018 (152)
119	ILLUMINA	ss3640124978	Oct 12, 2018 (152)
120	ILLUMINA	ss3640124979	Oct 12, 2018 (152)
121	ILLUMINA	ss3642869113	Oct 12, 2018 (152)
122	ILLUMINA	ss3644542396	Oct 12, 2018 (152)
123	OMUKHERJEE_ADBS	ss3646413554	Oct 12, 2018 (152)
124	URBANLAB	ss3649440878	Oct 12, 2018 (152)
125	ILLUMINA	ss3651623048	Oct 12, 2018 (152)
126	ILLUMINA	ss3653690611	Oct 12, 2018 (152)
127	EGCUT_WGS	ss3674372754	Jul 13, 2019 (153)
128	EVA_DECODE	ss3690455764	Jul 13, 2019 (153)
129	ILLUMINA	ss3725179271	Jul 13, 2019 (153)
130	ACPOP	ss3737582835	Jul 13, 2019 (153)
131	ILLUMINA	ss3744369838	Jul 13, 2019 (153)
132	ILLUMINA	ss3744718609	Jul 13, 2019 (153)
133	ILLUMINA	ss3744718610	Jul 13, 2019 (153)
134	EVA	ss3748464688	Jul 13, 2019 (153)
135	PAGE_CC	ss3771575565	Jul 13, 2019 (153)
136	ILLUMINA	ss3772218967	Jul 13, 2019 (153)
137	ILLUMINA	ss3772218968	Jul 13, 2019 (153)
138	KHV_HUMAN_GENOMES	ss3813830489	Jul 13, 2019 (153)
139	EVA	ss3824540369	Apr 26, 2020 (154)
140	EVA	ss3825526574	Apr 26, 2020 (154)
141	EVA	ss3825780673	Apr 26, 2020 (154)
142	EVA	ss3832275706	Apr 26, 2020 (154)
143	HGDP	ss3847395999	Apr 26, 2020 (154)
144	SGDP_PRJ	ss3874821263	Apr 26, 2020 (154)
145	KRGDB	ss3922948178	Apr 26, 2020 (154)
146	KOGIC	ss3968452094	Apr 26, 2020 (154)
147	FSA-LAB	ss3983983247	Apr 27, 2021 (155)
148	EVA	ss3984638982	Apr 27, 2021 (155)
149	EVA	ss3985493206	Apr 27, 2021 (155)
150	EVA	ss3986051253	Apr 27, 2021 (155)
151	EVA	ss3986493226	Apr 27, 2021 (155)
152	EVA	ss4017501348	Apr 27, 2021 (155)
153	TOPMED	ss4862510721	Apr 27, 2021 (155)
154	TOMMO_GENOMICS	ss5198954367	Apr 27, 2021 (155)
155	EVA	ss5236886026	Apr 27, 2021 (155)
156	EVA	ss5237210037	Apr 27, 2021 (155)
157	EVA	ss5237481859	Apr 27, 2021 (155)
158	EVA	ss5237655787	Oct 16, 2022 (156)
159	1000G_HIGH_COVERAGE	ss5285076349	Oct 16, 2022 (156)
160	TRAN_CS_UWATERLOO	ss5314429309	Oct 16, 2022 (156)
161	EVA	ss5315494342	Oct 16, 2022 (156)
162	EVA	ss5395303669	Oct 16, 2022 (156)
163	HUGCELL_USP	ss5480537721	Oct 16, 2022 (156)
164	EVA	ss5510127908	Oct 16, 2022 (156)
165	1000G_HIGH_COVERAGE	ss5579547210	Oct 16, 2022 (156)
166	EVA	ss5624011415	Oct 16, 2022 (156)
167	SANFORD_IMAGENETICS	ss5624255650	Oct 16, 2022 (156)
168	SANFORD_IMAGENETICS	ss5649879601	Oct 16, 2022 (156)
169	TOMMO_GENOMICS	ss5745167401	Oct 16, 2022 (156)
170	EVA	ss5799440855	Oct 16, 2022 (156)
171	EVA	ss5799821473	Oct 16, 2022 (156)
172	EVA	ss5800062039	Oct 16, 2022 (156)
173	EVA	ss5800161148	Oct 16, 2022 (156)
174	YY_MCH	ss5811789643	Oct 16, 2022 (156)
175	EVA	ss5824803694	Oct 16, 2022 (156)
176	EVA	ss5847378086	Oct 16, 2022 (156)
177	EVA	ss5847605501	Oct 16, 2022 (156)
178	EVA	ss5848304354	Oct 16, 2022 (156)
179	EVA	ss5849696053	Oct 16, 2022 (156)
180	EVA	ss5880072581	Oct 16, 2022 (156)
181	EVA	ss5941165779	Oct 16, 2022 (156)
182	EVA	ss5979335243	Oct 16, 2022 (156)
183	EVA	ss5980631331	Oct 16, 2022 (156)
184	1000Genomes	NC_000010.10 - 96066341	Oct 12, 2018 (152)
185	1000Genomes_30x	NC_000010.11 - 94306584	Oct 16, 2022 (156)
186	The Avon Longitudinal Study of Parents and Children	NC_000010.10 - 96066341	Oct 12, 2018 (152)
187	Chileans	NC_000010.10 - 96066341	Apr 26, 2020 (154)
188	Genome-wide autozygosity in Daghestan	NC_000010.9 - 96056331	Apr 26, 2020 (154)
189	Genetic variation in the Estonian population	NC_000010.10 - 96066341	Oct 12, 2018 (152)
190	ExAC	NC_000010.10 - 96066341	Oct 12, 2018 (152)
191	FINRISK	NC_000010.10 - 96066341	Apr 26, 2020 (154)
192	The Danish reference pan genome	NC_000010.10 - 96066341	Apr 26, 2020 (154)
193	gnomAD - Genomes	NC_000010.11 - 94306584	Apr 27, 2021 (155)
194	gnomAD - Exomes	NC_000010.10 - 96066341	Jul 13, 2019 (153)
195	GO Exome Sequencing Project	NC_000010.10 - 96066341	Oct 12, 2018 (152)
196	Genome of the Netherlands Release 5	NC_000010.10 - 96066341	Apr 26, 2020 (154)
197	HGDP-CEPH-db Supplement 1	NC_000010.9 - 96056331	Apr 26, 2020 (154)
198	HapMap	NC_000010.11 - 94306584	Apr 26, 2020 (154)
199	KOREAN population from KRGDB	NC_000010.10 - 96066341	Apr 26, 2020 (154)
200	Korean Genome Project	NC_000010.11 - 94306584	Apr 26, 2020 (154)
201	Medical Genome Project healthy controls from Spanish population	NC_000010.10 - 96066341	Apr 26, 2020 (154)
202	Northern Sweden	NC_000010.10 - 96066341	Jul 13, 2019 (153)
203	The PAGE Study	NC_000010.11 - 94306584	Jul 13, 2019 (153)
204	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000010.10 - 96066341	Apr 27, 2021 (155)
205	CNV burdens in cranial meningiomas	NC_000010.10 - 96066341	Apr 27, 2021 (155)
206	Qatari	NC_000010.10 - 96066341	Apr 26, 2020 (154)
207	SGDP_PRJ	NC_000010.10 - 96066341	Apr 26, 2020 (154)
208	Siberian	NC_000010.10 - 96066341	Apr 26, 2020 (154)
209	8.3KJPN	NC_000010.10 - 96066341	Apr 27, 2021 (155)
210	14KJPN	NC_000010.11 - 94306584	Oct 16, 2022 (156)
211	TopMed	NC_000010.11 - 94306584	Apr 27, 2021 (155)
212	UK 10K study - Twins	NC_000010.10 - 96066341	Oct 12, 2018 (152)
213	A Vietnamese Genetic Variation Database	NC_000010.10 - 96066341	Jul 13, 2019 (153)
214	ALFA	NC_000010.11 - 94306584	Apr 27, 2021 (155)
215	ClinVar	RCV000250112.3	Oct 16, 2022 (156)
216	ClinVar	RCV000605587.6	Oct 16, 2022 (156)
217	ClinVar	RCV001683082.4	Oct 16, 2022 (156)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs17516869	Oct 08, 2004 (123)
rs56605637	May 24, 2008 (130)
rs57839756	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss82784281, ss85285709, ss3638949380, ss3639474737	NC_000010.8:96056330:A:G	NC_000010.11:94306583:A:G	(self)
60805, 73891, ss66365616, ss76087882, ss113670535, ss168687084, ss170773270, ss172460194, ss174702201, ss201882115, ss280731282, ss286243536, ss290908753, ss480498084, ss491629815, ss825455674, ss1397589375, ss1597474341, ss1713202457, ss3642869113, ss3847395999	NC_000010.9:96056330:A:G	NC_000010.11:94306583:A:G	(self)
51041023, 28338097, 58316, 20111002, 238461, 65902, 2281874, 7616124, 998053, 12635986, 30125572, 381373, 10867700, 719133, 188447, 13209074, 26838243, 7104993, 56923674, 28338097, 6292869, ss224882896, ss235291656, ss241975079, ss480512442, ss481317512, ss485046540, ss491001478, ss491438518, ss537066625, ss562141398, ss657180107, ss712959858, ss778488996, ss780888934, ss782969491, ss783575178, ss783931149, ss832225801, ss832887042, ss833944971, ss974475576, ss987801038, ss1067514878, ss1077213209, ss1338610111, ss1426410501, ss1575295559, ss1584069441, ss1625189233, ss1668183266, ss1690009105, ss1711265613, ss1751988089, ss1751988090, ss1806519780, ss1917849749, ss1931167144, ss1946289649, ss1959284711, ss2026312318, ss2154588639, ss2627624951, ss2632748054, ss2632748055, ss2632748056, ss2698841226, ss2710717459, ss2738416423, ss2748440296, ss2892090901, ss2984919886, ss2985568248, ss3006960559, ss3021264630, ss3023065712, ss3349260145, ss3626509334, ss3626509335, ss3630771353, ss3632960208, ss3633657848, ss3634417637, ss3634417638, ss3635350129, ss3636101373, ss3637100832, ss3637867039, ss3640124978, ss3640124979, ss3644542396, ss3646413554, ss3651623048, ss3653690611, ss3674372754, ss3737582835, ss3744369838, ss3744718609, ss3744718610, ss3748464688, ss3772218967, ss3772218968, ss3824540369, ss3825526574, ss3825780673, ss3832275706, ss3874821263, ss3922948178, ss3983983247, ss3984638982, ss3985493206, ss3986051253, ss3986493226, ss4017501348, ss5198954367, ss5237481859, ss5315494342, ss5395303669, ss5510127908, ss5624011415, ss5624255650, ss5649879601, ss5799440855, ss5799821473, ss5800062039, ss5800161148, ss5824803694, ss5847378086, ss5847605501, ss5848304354, ss5941165779, ss5979335243, ss5980631331	NC_000010.10:96066340:A:G	NC_000010.11:94306583:A:G	(self)
RCV000250112.3, RCV000605587.6, RCV001683082.4, 67073145, 360640662, 467769, 24830095, 797034, 79004505, 78056376, 6043235549, ss2177121764, ss3026946301, ss3649440878, ss3690455764, ss3725179271, ss3771575565, ss3813830489, ss3968452094, ss4862510721, ss5236886026, ss5237210037, ss5237655787, ss5285076349, ss5314429309, ss5480537721, ss5579547210, ss5745167401, ss5811789643, ss5849696053, ss5880072581	NC_000010.11:94306583:A:G	NC_000010.11:94306583:A:G	(self)
ss16068086	NT_030059.11:14814866:A:G	NC_000010.11:94306583:A:G	(self)
ss76892790	NT_030059.12:14814866:A:G	NC_000010.11:94306583:A:G	(self)
ss3209933, ss24553145, ss65726460, ss65985559, ss66556613, ss67240333, ss67636964, ss68423415, ss69088087, ss70718673, ss71286885, ss75678128, ss79125156, ss84015953, ss86241063, ss86347196, ss97675301, ss106695831, ss121977271, ss142584842, ss153897391, ss159375233, ss159721097, ss160525809, ss171144462, ss173235428	NT_030059.13:46870804:A:G	NC_000010.11:94306583:A:G	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

72 citations for rs2274223

PMID	Title	Author	Year	Journal
16385451	A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.	Grupe A et al.	2006	American journal of human genetics
20729852	A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma.	Abnet CC et al.	2010	Nature genetics
21427165	Genetic variants at 1q22 and 10q23 reproducibly associated with gastric cancer susceptibility in a Chinese population.	Zhang H et al.	2011	Carcinogenesis
21689432	Association between novel PLCE1 variants identified in published esophageal cancer genome-wide association studies and risk of squamous cell carcinoma of the head and neck.	Ma H et al.	2011	BMC cancer
21837401	Genetic variation in PLCE1 is associated with gastric cancer survival in a Chinese population.	Luo D et al.	2011	Journal of gastroenterology
22203178	Putatively functional PLCE1 variants and susceptibility to esophageal squamous cell carcinoma (ESCC): a case-control study in eastern Chinese populations.	Hu H et al.	2012	Annals of surgical oncology
22323360	Genotypic variants at 2q33 and risk of esophageal squamous cell carcinoma in China: a meta-analysis of genome-wide association studies.	Abnet CC et al.	2012	Human molecular genetics
22412849	Potentially functional variants of PLCE1 identified by GWASs contribute to gastric adenocarcinoma susceptibility in an eastern Chinese population.	Wang M et al.	2012	PloS one
22507220	Epidemiologic differences in esophageal cancer between Asian and Western populations.	Zhang HZ et al.	2012	Chinese journal of cancer
22740136	Association of 10q23 with colorectal cancer in a Chinese population.	Li FX et al.	2012	Molecular biology reports
22744421	Replication study of PLCE1 and C20orf54 polymorphism and risk of esophageal cancer in a Chinese population.	Gu H et al.	2012	Molecular biology reports
22805490	Genetic variation in C20orf54, PLCE1 and MUC1 and the risk of upper gastrointestinal cancers in Caucasian populations.	Palmer AJ et al.	2012	European journal of cancer prevention
22865593	Distinct genetic association at the PLCE1 locus with oesophageal squamous cell carcinoma in the South African population.	Bye H et al.	2012	Carcinogenesis
23151416	Genetic variants at 10q23 are associated with risk of head and neck cancer in a Chinese population.	Yuan Z et al.	2013	Oral oncology
23222411	GWAS-uncovered SNPs in PLCE1 and RFT2 genes are not implicated in Dutch esophageal adenocarcinoma and squamous cell carcinoma etiology.	Dura P et al.	2013	European journal of cancer prevention
23390063	A sequence variant in the phospholipase C epsilon C2 domain is associated with esophageal carcinoma and esophagitis.	Wang LD et al.	2013	Molecular carcinogenesis
23629646	Epidemiology of esophageal cancer in Japan and China.	Lin Y et al.	2013	Journal of epidemiology
23688607	Novel functional variants locus in PLCE1 and susceptibility to esophageal squamous cell carcinoma: based on published genome-wide association studies in a central Chinese population.	Duan F et al.	2013	Cancer epidemiology
23797815	PLCE1 rs2274223 A>G polymorphism and cancer risk: a meta-analysis.	Umar M et al.	2013	Tumour biology
23975622	Association of potentially functional genetic variants of PLCE1 with gallbladder cancer susceptibility in north Indian population.	Sharma KL et al.	2013	Journal of gastrointestinal cancer
23981775	Multiple polymorphisms within the PLCE1 are associated with esophageal cancer via promoting the gene expression in a Chinese Kazakh population.	Cui XB et al.	2013	Gene
24127316	Heterozygote of PLCE1 rs2274223 increases susceptibility to human papillomavirus infection in patients with esophageal carcinoma among the Kazakh populations.	Cui X et al.	2014	Journal of medical virology
24152165	Replication of results of genome-wide association studies on esophageal squamous cell carcinoma susceptibility loci in a Korean population.	Piao JM et al.	2014	Diseases of the esophagus
24254309	Common genetic variants at 1q22 and 10q23 and gastric cancer susceptibility in a Korean population.	Song HR et al.	2014	Tumour biology
24496148	Association between phospholipase C epsilon gene (PLCE1) polymorphism and colorectal cancer risk in a Chinese population.	Wang Q et al.	2014	The Journal of international medical research
24737582	PLCE1 rs2274223 polymorphism contributes to risk of esophageal cancer: evidence based on a meta-analysis.	Wang J et al.	2014	Tumour biology
24863943	A multigenic approach to evaluate genetic variants of PLCE1, LXRs, MMPs, TIMP, and CYP genes in gallbladder cancer predisposition.	Sharma KL et al.	2014	Tumour biology
24874112	Novel functional variants locus in PLCE1 and susceptibility to digestive tract cancer in the Chinese population: a meta-analysis.	Duan F et al.	2014	The International journal of biological markers
24884822	A replication study confirms the association of GWAS-identified SNPs at MICB and PLCE1 in Thai patients with dengue shock syndrome.	Dang TN et al.	2014	BMC medical genetics
25133033	Epidemiological studies of esophageal cancer in the era of genome-wide association studies.	Wang AH et al.	2014	World journal of gastrointestinal pathophysiology
25139097	Role of novel and GWAS originated PLCE1 genetic variants in susceptibility and prognosis of esophageal cancer patients in northern Indian population.	Umar M et al.	2014	Tumour biology
25614244	Association between PLCE1 rs2274223 A > G polymorphism and cancer risk: proof from a meta-analysis.	Xue W et al.	2015	Scientific reports
25658482	Associations of genetic variants in the PSCA, MUC1 and PLCE1 genes with stomach cancer susceptibility in a Chinese population.	Sun H et al.	2015	PloS one
25687184	Genome-wide association pathway analysis to identify candidate single nucleotide polymorphisms and molecular pathways for gastric adenocarcinoma.	Zhu H et al.	2015	Tumour biology
25731870	Genetic variation and gastric cancer risk: a field synopsis and meta-analysis.	Mocellin S et al.	2015	Gut
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine
26078291	Genetic variant PLCE1 rs2274223 and gastric cancer: more to be explored?	He Y et al.	2016	Gut
26125444	Family history of cancer and the risk of squamous cell carcinoma of oesophagus: a case-control study in Kashmir, India.	Bhat GA et al.	2015	British journal of cancer
26176862	Evaluating the Association of Eight Polymorphisms with Cancer Susceptibility in a Han Chinese Population.	Dong Y et al.	2015	PloS one
26683024	Comparison of Genetic Variants in Cancer-Related Genes between Chinese Hui and Han Populations.	Tian C et al.	2015	PloS one
26760766	Association of nucleotide excision repair pathway gene polymorphisms with gastric cancer and atrophic gastritis risks.	Liu J et al.	2016	Oncotarget
26770579	Genetic variants at 6p21, 10q23, 16q21 and 22q12 are associated with esophageal cancer risk in a Chinese Han population.	Jia X et al.	2015	International journal of clinical and experimental medicine
26891331	Impact of DCC (rs714) and PSCA (rs2294008 and rs2976392) Gene Polymorphism in Modulating Cancer Risk in Asian Population.	Chandra V et al.	2016	Genes
27038471	In silico transcriptional regulation and functional analysis of dengue shock syndrome associated SNPs in PLCE1 and MICB genes.	Taqi MM et al.	2016	Functional & integrative genomics
27061602	Cytochrome P450 1A1 gene polymorphisms and digestive tract cancer susceptibility: a meta-analysis.	Ren A et al.	2016	Journal of cellular and molecular medicine
27127881	Risk prediction for early-onset gastric carcinoma: a case-control study of polygenic gastric cancer in Han Chinese with hereditary background.	Yuan J et al.	2016	Oncotarget
27186304	Genome-wide association study identified PLCE1- rs2797992 and EGFR- rs6950826 were associated with TP53 expression in the HBV-related hepatocellular carcinoma of Chinese patients in Guangxi.	Liao X et al.	2016	American journal of translational research
27383248	Genetic Variations in Phospholipase C-epsilon 1 (PLCE1) and Susceptibility to Colorectal Cancer Risk.	Ezgi O et al.	2016	Biochemical genetics
28418898	PLCE1 polymorphisms and expression combined with serum AFP level predicts survival of HBV-related hepatocellular carcinoma patients after hepatectomy.	Liao X et al.	2017	Oncotarget
28424424	Leukocyte telomere length-related genetic variants in ACYP2 contribute to the risk of esophageal carcinoma in Chinese Han population.	Fang Q et al.	2017	Oncotarget
28652652	Gallbladder cancer epidemiology, pathogenesis and molecular genetics: Recent update.	Sharma A et al.	2017	World journal of gastroenterology
29387411	Phospholipase C ε-1 gene polymorphisms and prognosis of esophageal cancer patients from a high-incidence region in northern China.	Zhou RM et al.	2018	Molecular and clinical oncology
29673983	Population genetics-informed meta-analysis in seven genes associated with risk to dengue fever disease.	Oliveira M et al.	2018	Infection, genetics and evolution
29983348	Evaluation of GWAS-Identified Genetic Variants for Gastric Cancer Survival.	Gu D et al.	2018	EBioMedicine
30202044	Gastric cancer may share genetic predisposition with esophageal squamous cell carcinoma in Chinese populations.	Yao L et al.	2018	Journal of human genetics
30619753	Single Nucleotide Polymorphisms in PLCE1 for Cancer Risk of Different Types: A Meta-Analysis.	Li X et al.	2018	Frontiers in oncology
30666517	An Association and Meta-Analysis of Esophageal Squamous Cell Carcinoma Risk Associated with PLCE1 rs2274223, C20orf54 rs13042395 and RUNX1 rs2014300 Polymorphisms.	Nariman-Saleh-Fam Z et al.	2020	Pathology oncology research
30753320	Association of genetic variants in CHEK2 with oesophageal squamous cell carcinoma in the South African Black population.	Chen WC et al.	2019	Carcinogenesis
30784231	Correlation between PLCE1 rs2274223 variant and digestive tract cancer: A meta-analysis.	Chen Q et al.	2019	Molecular genetics & genomic medicine
30793520	Cumulative evidence for association between genetic polymorphisms and esophageal cancer susceptibility: A review with evidence from meta-analysis and genome-wide association studies.	Tian J et al.	2019	Cancer medicine
30931333	PLCE1 Polymorphisms and Risk of Esophageal and Gastric Cancer in a Northwestern Chinese Population.	Liang P et al.	2019	BioMed research international
31428123	Systematic Review of Genetic Factors in the Etiology of Esophageal Squamous Cell Carcinoma in African Populations.	Simba H et al.	2019	Frontiers in genetics
31516756	Genetic polymorphisms and gastric cancer risk: a comprehensive review synopsis from meta-analysis and genome-wide association studies.	Tian J et al.	2019	Cancer biology & medicine
31649800	The Correlation between Phospholipase C Epsilon (PLCE1) Gene Polymorphisms and Risk of Gastric Adenocarcinoma in Iranian Population.	Shekarriz R et al.	2019	International journal of hematology-oncology and stem cell research
31767616	Estimation of associations between 10 common gene polymorphisms and gastric cancer: evidence from a meta-analysis.	Xie Z et al.	2020	Journal of clinical pathology
32777176	Predictive model for risk of gastric cancer using genetic variants from genome-wide association studies and high-evidence meta-analysis.	Qiu L et al.	2020	Cancer medicine
32802164	A multinational review: Oesophageal cancer in low to middle-income countries.	Hull R et al.	2020	Oncology letters
32869542	Genetic variants in GHR and PLCE1 genes are associated with susceptibility to esophageal cancer.	Wang R et al.	2020	Molecular genetics & genomic medicine
33162810	The PLCE1 rs2274223 variant is associated with the risk of laryngeal squamous cell carcinoma.	Zhang Y et al.	2020	International journal of medical sciences
34046701	Independent and opposing associations of dietary phytosterols intake and PLCE1 rs2274223 polymorphisms on esophageal squamous cell carcinoma risk.	Wang S et al.	2021	European journal of nutrition
34491229	Identification and epidemiological evaluation of gastric cancer risk factors: based on a field synopsis and meta-analysis in Chinese population.	Duan F et al.	2021	Aging
34531897	PLCE1 Polymorphisms Are Associated With Gastric Cancer Risk: The Changes in Protein Spatial Structure May Play a Potential Role.	Hu X et al.	2021	Frontiers in genetics

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

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Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

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Reference SNP (rs) Report

rs2274223