Name: rs4505848
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.

rs4505848

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:122211337 (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=0.280464 (74236/264690, TOPMED)
G=0.330277 (79036/239302, ALFA)
G=0.290571 (40326/138782, GnomAD) (+ 21 more)
G=0.27641 (21753/78698, PAGE_STUDY)
G=0.49200 (13901/28254, 14KJPN)
G=0.49379 (8276/16760, 8.3KJPN)
G=0.2870 (1838/6404, 1000G_30x)
G=0.2963 (1484/5008, 1000G)
G=0.3949 (1769/4480, Estonian)
G=0.3378 (1302/3854, ALSPAC)
G=0.3285 (1218/3708, TWINSUK)
A=0.4997 (1464/2930, KOREAN)
G=0.3218 (670/2082, HGDP_Stanford)
A=0.4967 (910/1832, Korea1K)
G=0.2438 (277/1136, Daghestan)
G=0.364 (363/998, GoNL)
G=0.471 (369/784, PRJEB37584)
G=0.412 (247/600, NorthernSweden)
A=0.390 (114/292, SGDP_PRJ)
G=0.125 (27/216, Qatari)
G=0.364 (78/214, Vietnamese)
G=0.33 (20/60, Ancient Sardinia)
A=0.41 (18/44, Siberian)
G=0.35 (14/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: KIAA1109 : Intron Variant
Publications: 19 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	239518	A=0.669753	G=0.330247
European	Sub	199222	A=0.666688	G=0.333312
African	Sub	8868	A=0.8792	G=0.1208
African Others	Sub	308	A=0.906	G=0.094
African American	Sub	8560	A=0.8783	G=0.1217
Asian	Sub	6396	A=0.5391	G=0.4609
East Asian	Sub	4558	A=0.5138	G=0.4862
Other Asian	Sub	1838	A=0.6017	G=0.3983
Latin American 1	Sub	624	A=0.750	G=0.250
Latin American 2	Sub	5668	A=0.5217	G=0.4783
South Asian	Sub	5154	A=0.7282	G=0.2718
Other	Sub	13586	A=0.67540	G=0.32460

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
TopMed	Global	Study-wide	264690	A=0.719536	G=0.280464
Allele Frequency Aggregator	Total	Global	239302	A=0.669723	G=0.330277
Allele Frequency Aggregator	European	Sub	199042	A=0.666688	G=0.333312
Allele Frequency Aggregator	Other	Sub	13564	A=0.67502	G=0.32498
Allele Frequency Aggregator	African	Sub	8854	A=0.8793	G=0.1207
Allele Frequency Aggregator	Asian	Sub	6396	A=0.5391	G=0.4609
Allele Frequency Aggregator	Latin American 2	Sub	5668	A=0.5217	G=0.4783
Allele Frequency Aggregator	South Asian	Sub	5154	A=0.7282	G=0.2718
Allele Frequency Aggregator	Latin American 1	Sub	624	A=0.750	G=0.250
gnomAD - Genomes	Global	Study-wide	138782	A=0.709429	G=0.290571
gnomAD - Genomes	European	Sub	75242	A=0.64106	G=0.35894
gnomAD - Genomes	African	Sub	41496	A=0.87686	G=0.12314
gnomAD - Genomes	American	Sub	13528	A=0.59506	G=0.40494
gnomAD - Genomes	Ashkenazi Jewish	Sub	3286	A=0.7815	G=0.2185
gnomAD - Genomes	East Asian	Sub	3124	A=0.5528	G=0.4472
gnomAD - Genomes	Other	Sub	2106	A=0.7075	G=0.2925
The PAGE Study	Global	Study-wide	78698	A=0.72359	G=0.27641
The PAGE Study	AfricanAmerican	Sub	32512	A=0.87134	G=0.12866
The PAGE Study	Mexican	Sub	10810	A=0.52618	G=0.47382
The PAGE Study	Asian	Sub	8318	A=0.5135	G=0.4865
The PAGE Study	PuertoRican	Sub	7918	A=0.7041	G=0.2959
The PAGE Study	NativeHawaiian	Sub	4534	A=0.7034	G=0.2966
The PAGE Study	Cuban	Sub	4230	A=0.7210	G=0.2790
The PAGE Study	Dominican	Sub	3828	A=0.7800	G=0.2200
The PAGE Study	CentralAmerican	Sub	2450	A=0.5531	G=0.4469
The PAGE Study	SouthAmerican	Sub	1982	A=0.5626	G=0.4374
The PAGE Study	NativeAmerican	Sub	1260	A=0.6190	G=0.3810
The PAGE Study	SouthAsian	Sub	856	A=0.709	G=0.291
14KJPN	JAPANESE	Study-wide	28254	A=0.50800	G=0.49200
8.3KJPN	JAPANESE	Study-wide	16760	A=0.50621	G=0.49379
1000Genomes_30x	Global	Study-wide	6404	A=0.7130	G=0.2870
1000Genomes_30x	African	Sub	1786	A=0.9295	G=0.0705
1000Genomes_30x	Europe	Sub	1266	A=0.6611	G=0.3389
1000Genomes_30x	South Asian	Sub	1202	A=0.6955	G=0.3045
1000Genomes_30x	East Asian	Sub	1170	A=0.5744	G=0.4256
1000Genomes_30x	American	Sub	980	A=0.572	G=0.428
1000Genomes	Global	Study-wide	5008	A=0.7037	G=0.2963
1000Genomes	African	Sub	1322	A=0.9206	G=0.0794
1000Genomes	East Asian	Sub	1008	A=0.5675	G=0.4325
1000Genomes	Europe	Sub	1006	A=0.6531	G=0.3469
1000Genomes	South Asian	Sub	978	A=0.703	G=0.297
1000Genomes	American	Sub	694	A=0.562	G=0.438
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.6051	G=0.3949
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.6622	G=0.3378
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.6715	G=0.3285
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.4997	G=0.5003
HGDP-CEPH-db Supplement 1	Global	Study-wide	2082	A=0.6782	G=0.3218
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.551	G=0.449
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.771	G=0.229
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.834	G=0.166
HGDP-CEPH-db Supplement 1	Europe	Sub	318	A=0.676	G=0.324
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.930	G=0.070
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.259	G=0.741
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.64	G=0.36
Korean Genome Project	KOREAN	Study-wide	1832	A=0.4967	G=0.5033
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	A=0.7562	G=0.2438
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	A=0.782	G=0.218
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	A=0.806	G=0.194
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	A=0.648	G=0.352
Genome-wide autozygosity in Daghestan	Europe	Sub	108	A=0.657	G=0.343
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	A=0.73	G=0.27
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	A=0.83	G=0.17
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.636	G=0.364
CNV burdens in cranial meningiomas	Global	Study-wide	784	A=0.529	G=0.471
CNV burdens in cranial meningiomas	CRM	Sub	784	A=0.529	G=0.471
Northern Sweden	ACPOP	Study-wide	600	A=0.588	G=0.412
SGDP_PRJ	Global	Study-wide	292	A=0.390	G=0.610
Qatari	Global	Study-wide	216	A=0.875	G=0.125
A Vietnamese Genetic Variation Database	Global	Study-wide	214	A=0.636	G=0.364
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	60	A=0.67	G=0.33
Siberian	Global	Study-wide	44	A=0.41	G=0.59
The Danish reference pan genome	Danish	Study-wide	40	A=0.65	G=0.35

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 4	NC_000004.12:g.122211337A>G
GRCh37.p13 chr 4	NC_000004.11:g.123132492A>G
BLTP1 RefSeqGene	NG_015813.2:g.45735A>G

Gene: KIAA1109, KIAA1109 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
BLTP1 transcript variant 1	NM_001384125.1:c.2247+242… NM_001384125.1:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant 2	NM_015312.4:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X22	XM_005263282.2:c.2247+242… XM_005263282.2:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X24	XM_005263287.2:c.2247+242… XM_005263287.2:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X42	XM_006714344.2:c.2247+242… XM_006714344.2:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X1	XM_011532320.4:c.2247+242… XM_011532320.4:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X6	XM_011532322.2:c.2247+242… XM_011532322.2:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X11	XM_011532323.2:c.2247+242… XM_011532323.2:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X12	XM_011532324.2:c.2247+242… XM_011532324.2:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X13	XM_011532325.2:c.2247+242… XM_011532325.2:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X14	XM_011532326.2:c.2247+242… XM_011532326.2:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X34	XM_011532330.2:c.498+242A… XM_011532330.2:c.498+242A>G	N/A	Intron Variant
BLTP1 transcript variant X25	XM_017008695.2:c.2247+242… XM_017008695.2:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X29	XM_017008697.2:c.2247+242… XM_017008697.2:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X41	XM_017008699.2:c.2247+242… XM_017008699.2:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X35	XM_024454243.1:c.399+242A… XM_024454243.1:c.399+242A>G	N/A	Intron Variant
BLTP1 transcript variant X2	XM_047416251.1:c.2247+242… XM_047416251.1:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X3	XM_047416252.1:c.2247+242… XM_047416252.1:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X4	XM_047416253.1:c.2247+242… XM_047416253.1:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X5	XM_047416254.1:c.2247+242… XM_047416254.1:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X7	XM_047416255.1:c.2247+242… XM_047416255.1:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X8	XM_047416256.1:c.2247+242… XM_047416256.1:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X9	XM_047416257.1:c.2247+242… XM_047416257.1:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X10	XM_047416258.1:c.2247+242… XM_047416258.1:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X15	XM_047416259.1:c.2247+242… XM_047416259.1:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X16	XM_047416260.1:c.2247+242… XM_047416260.1:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X17	XM_047416261.1:c.2247+242… XM_047416261.1:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X18	XM_047416262.1:c.2247+242… XM_047416262.1:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X19	XM_047416263.1:c.2247+242… XM_047416263.1:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X20	XM_047416264.1:c.2097+242… XM_047416264.1:c.2097+242A>G	N/A	Intron Variant
BLTP1 transcript variant X21	XM_047416265.1:c.2247+242… XM_047416265.1:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X23	XM_047416266.1:c.2247+242… XM_047416266.1:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X26	XM_047416267.1:c.2247+242… XM_047416267.1:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X27	XM_047416268.1:c.2247+242… XM_047416268.1:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X28	XM_047416269.1:c.2247+242… XM_047416269.1:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X30	XM_047416270.1:c.2247+242… XM_047416270.1:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X31	XM_047416271.1:c.2247+242… XM_047416271.1:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X32	XM_047416272.1:c.1509+242… XM_047416272.1:c.1509+242A>G	N/A	Intron Variant
BLTP1 transcript variant X33	XM_047416273.1:c.2247+242… XM_047416273.1:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X37	XM_047416275.1:c.2247+242… XM_047416275.1:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X38	XM_047416276.1:c.2247+242… XM_047416276.1:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X39	XM_047416277.1:c.2247+242… XM_047416277.1:c.2247+242A>G	N/A	Intron Variant
BLTP1 transcript variant X36	XM_017008698.2:c.	N/A	Genic Upstream Transcript Variant
BLTP1 transcript variant X40	XR_938783.2:n.	N/A	Intron 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.

Not Reported in ClinVar

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 4	NC_000004.12:g.122211337=	NC_000004.12:g.122211337A>G
GRCh37.p13 chr 4	NC_000004.11:g.123132492=	NC_000004.11:g.123132492A>G
BLTP1 RefSeqGene	NG_015813.2:g.45735=	NG_015813.2:g.45735A>G
BLTP1 transcript variant 1	NM_001384125.1:c.2247+242=	NM_001384125.1:c.2247+242A>G
KIAA1109 transcript variant 2	NM_015312.3:c.2247+242=	NM_015312.3:c.2247+242A>G
BLTP1 transcript variant 2	NM_015312.4:c.2247+242=	NM_015312.4:c.2247+242A>G
KIAA1109 transcript variant X10	XM_005263282.1:c.2247+242=	XM_005263282.1:c.2247+242A>G
BLTP1 transcript variant X22	XM_005263282.2:c.2247+242=	XM_005263282.2:c.2247+242A>G
KIAA1109 transcript variant X2	XM_005263283.1:c.2247+242=	XM_005263283.1:c.2247+242A>G
KIAA1109 transcript variant X3	XM_005263284.1:c.2247+242=	XM_005263284.1:c.2247+242A>G
KIAA1109 transcript variant X4	XM_005263285.1:c.2247+242=	XM_005263285.1:c.2247+242A>G
KIAA1109 transcript variant X5	XM_005263286.1:c.2247+242=	XM_005263286.1:c.2247+242A>G
KIAA1109 transcript variant X11	XM_005263287.1:c.2247+242=	XM_005263287.1:c.2247+242A>G
BLTP1 transcript variant X24	XM_005263287.2:c.2247+242=	XM_005263287.2:c.2247+242A>G
KIAA1109 transcript variant X7	XM_005263288.1:c.2247+242=	XM_005263288.1:c.2247+242A>G
KIAA1109 transcript variant X8	XM_005263289.1:c.2247+242=	XM_005263289.1:c.2247+242A>G
KIAA1109 transcript variant X9	XM_005263290.1:c.2247+242=	XM_005263290.1:c.2247+242A>G
KIAA1109 transcript variant X10	XM_005263291.1:c.498+242=	XM_005263291.1:c.498+242A>G
KIAA1109 transcript variant X11	XM_005263292.1:c.399+242=	XM_005263292.1:c.399+242A>G
BLTP1 transcript variant X42	XM_006714344.2:c.2247+242=	XM_006714344.2:c.2247+242A>G
BLTP1 transcript variant X1	XM_011532320.4:c.2247+242=	XM_011532320.4:c.2247+242A>G
BLTP1 transcript variant X6	XM_011532322.2:c.2247+242=	XM_011532322.2:c.2247+242A>G
BLTP1 transcript variant X11	XM_011532323.2:c.2247+242=	XM_011532323.2:c.2247+242A>G
BLTP1 transcript variant X12	XM_011532324.2:c.2247+242=	XM_011532324.2:c.2247+242A>G
BLTP1 transcript variant X13	XM_011532325.2:c.2247+242=	XM_011532325.2:c.2247+242A>G
BLTP1 transcript variant X14	XM_011532326.2:c.2247+242=	XM_011532326.2:c.2247+242A>G
BLTP1 transcript variant X34	XM_011532330.2:c.498+242=	XM_011532330.2:c.498+242A>G
BLTP1 transcript variant X25	XM_017008695.2:c.2247+242=	XM_017008695.2:c.2247+242A>G
BLTP1 transcript variant X29	XM_017008697.2:c.2247+242=	XM_017008697.2:c.2247+242A>G
BLTP1 transcript variant X41	XM_017008699.2:c.2247+242=	XM_017008699.2:c.2247+242A>G
BLTP1 transcript variant X35	XM_024454243.1:c.399+242=	XM_024454243.1:c.399+242A>G
BLTP1 transcript variant X2	XM_047416251.1:c.2247+242=	XM_047416251.1:c.2247+242A>G
BLTP1 transcript variant X3	XM_047416252.1:c.2247+242=	XM_047416252.1:c.2247+242A>G
BLTP1 transcript variant X4	XM_047416253.1:c.2247+242=	XM_047416253.1:c.2247+242A>G
BLTP1 transcript variant X5	XM_047416254.1:c.2247+242=	XM_047416254.1:c.2247+242A>G
BLTP1 transcript variant X7	XM_047416255.1:c.2247+242=	XM_047416255.1:c.2247+242A>G
BLTP1 transcript variant X8	XM_047416256.1:c.2247+242=	XM_047416256.1:c.2247+242A>G
BLTP1 transcript variant X9	XM_047416257.1:c.2247+242=	XM_047416257.1:c.2247+242A>G
BLTP1 transcript variant X10	XM_047416258.1:c.2247+242=	XM_047416258.1:c.2247+242A>G
BLTP1 transcript variant X15	XM_047416259.1:c.2247+242=	XM_047416259.1:c.2247+242A>G
BLTP1 transcript variant X16	XM_047416260.1:c.2247+242=	XM_047416260.1:c.2247+242A>G
BLTP1 transcript variant X17	XM_047416261.1:c.2247+242=	XM_047416261.1:c.2247+242A>G
BLTP1 transcript variant X18	XM_047416262.1:c.2247+242=	XM_047416262.1:c.2247+242A>G
BLTP1 transcript variant X19	XM_047416263.1:c.2247+242=	XM_047416263.1:c.2247+242A>G
BLTP1 transcript variant X20	XM_047416264.1:c.2097+242=	XM_047416264.1:c.2097+242A>G
BLTP1 transcript variant X21	XM_047416265.1:c.2247+242=	XM_047416265.1:c.2247+242A>G
BLTP1 transcript variant X23	XM_047416266.1:c.2247+242=	XM_047416266.1:c.2247+242A>G
BLTP1 transcript variant X26	XM_047416267.1:c.2247+242=	XM_047416267.1:c.2247+242A>G
BLTP1 transcript variant X27	XM_047416268.1:c.2247+242=	XM_047416268.1:c.2247+242A>G
BLTP1 transcript variant X28	XM_047416269.1:c.2247+242=	XM_047416269.1:c.2247+242A>G
BLTP1 transcript variant X30	XM_047416270.1:c.2247+242=	XM_047416270.1:c.2247+242A>G
BLTP1 transcript variant X31	XM_047416271.1:c.2247+242=	XM_047416271.1:c.2247+242A>G
BLTP1 transcript variant X32	XM_047416272.1:c.1509+242=	XM_047416272.1:c.1509+242A>G
BLTP1 transcript variant X33	XM_047416273.1:c.2247+242=	XM_047416273.1:c.2247+242A>G
BLTP1 transcript variant X37	XM_047416275.1:c.2247+242=	XM_047416275.1:c.2247+242A>G
BLTP1 transcript variant X38	XM_047416276.1:c.2247+242=	XM_047416276.1:c.2247+242A>G
BLTP1 transcript variant X39	XM_047416277.1:c.2247+242=	XM_047416277.1:c.2247+242A>G

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#.

129 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss6069205	Feb 20, 2003 (111)
2	CSHL-HAPMAP	ss19571517	Feb 27, 2004 (120)
3	PERLEGEN	ss23953723	Sep 20, 2004 (123)
4	ABI	ss44542863	Mar 15, 2006 (126)
5	ILLUMINA	ss66544707	Nov 30, 2006 (127)
6	ILLUMINA	ss67341532	Nov 30, 2006 (127)
7	ILLUMINA	ss67736830	Nov 30, 2006 (127)
8	JDRF_WT_DIL	ss69355986	May 17, 2007 (127)
9	ILLUMINA	ss70807281	May 26, 2008 (130)
10	ILLUMINA	ss71386996	May 17, 2007 (127)
11	AFFY	ss74832321	Aug 16, 2007 (128)
12	ILLUMINA	ss75618071	Dec 07, 2007 (129)
13	HGSV	ss78252380	Dec 07, 2007 (129)
14	ILLUMINA	ss79184026	Dec 16, 2007 (130)
15	KRIBB_YJKIM	ss84281647	Dec 16, 2007 (130)
16	BCMHGSC_JDW	ss92756228	Mar 24, 2008 (129)
17	1000GENOMES	ss108295937	Jan 23, 2009 (130)
18	VANHEEL_LAB_LONDON	ss120247236	Dec 01, 2009 (131)
19	WTCCC	ss120254162	Dec 01, 2009 (131)
20	ILLUMINA	ss122321690	Dec 01, 2009 (131)
21	ENSEMBL	ss139857702	Dec 01, 2009 (131)
22	ILLUMINA	ss154297897	Dec 01, 2009 (131)
23	GMI	ss157839950	Dec 01, 2009 (131)
24	ILLUMINA	ss159474804	Dec 01, 2009 (131)
25	ILLUMINA	ss161081256	Dec 01, 2009 (131)
26	ENSEMBL	ss161491966	Dec 01, 2009 (131)
27	COMPLETE_GENOMICS	ss162504631	Jul 04, 2010 (132)
28	ILLUMINA	ss171810155	Jul 04, 2010 (132)
29	ILLUMINA	ss173744266	Jul 04, 2010 (132)
30	1000GENOMES	ss221184630	Jul 14, 2010 (132)
31	1000GENOMES	ss232577872	Jul 14, 2010 (132)
32	1000GENOMES	ss239828438	Jul 15, 2010 (132)
33	GMI	ss277907446	May 04, 2012 (137)
34	GMI	ss284996803	Apr 25, 2013 (138)
35	PJP	ss293178190	May 09, 2011 (134)
36	ILLUMINA	ss479408016	Sep 08, 2015 (146)
37	EXOME_CHIP	ss491360286	May 04, 2012 (137)
38	ILLUMINA	ss537241464	Sep 08, 2015 (146)
39	TISHKOFF	ss557820467	Apr 25, 2013 (138)
40	SSMP	ss651629671	Apr 25, 2013 (138)
41	ILLUMINA	ss780685103	Sep 08, 2015 (146)
42	ILLUMINA	ss783358580	Sep 08, 2015 (146)
43	ILLUMINA	ss825514544	Jul 19, 2016 (147)
44	ILLUMINA	ss832986267	Jul 13, 2019 (153)
45	EVA-GONL	ss980620414	Aug 21, 2014 (142)
46	JMKIDD_LAB	ss1071914264	Aug 21, 2014 (142)
47	1000GENOMES	ss1311604846	Aug 21, 2014 (142)
48	HAMMER_LAB	ss1397387719	Sep 08, 2015 (146)
49	EVA_GENOME_DK	ss1580754141	Apr 01, 2015 (144)
50	EVA_DECODE	ss1590128210	Apr 01, 2015 (144)
51	EVA_UK10K_ALSPAC	ss1611066918	Apr 01, 2015 (144)
52	EVA_UK10K_TWINSUK	ss1654060951	Apr 01, 2015 (144)
53	EVA_SVP	ss1712703656	Apr 01, 2015 (144)
54	ILLUMINA	ss1752495702	Sep 08, 2015 (146)
55	ILLUMINA	ss1917784358	Feb 12, 2016 (147)
56	WEILL_CORNELL_DGM	ss1923863446	Feb 12, 2016 (147)
57	ILLUMINA	ss1946126452	Feb 12, 2016 (147)
58	ILLUMINA	ss1958717425	Feb 12, 2016 (147)
59	GENOMED	ss1969855375	Jul 19, 2016 (147)
60	JJLAB	ss2022515193	Sep 14, 2016 (149)
61	ILLUMINA	ss2094935556	Dec 20, 2016 (150)
62	ILLUMINA	ss2095148803	Dec 20, 2016 (150)
63	ILLUMINA	ss2095148804	Dec 20, 2016 (150)
64	USC_VALOUEV	ss2150646076	Dec 20, 2016 (150)
65	HUMAN_LONGEVITY	ss2266713292	Dec 20, 2016 (150)
66	SYSTEMSBIOZJU	ss2625754439	Nov 08, 2017 (151)
67	ILLUMINA	ss2634172226	Nov 08, 2017 (151)
68	GRF	ss2706129992	Nov 08, 2017 (151)
69	GNOMAD	ss2814654209	Nov 08, 2017 (151)
70	AFFY	ss2985302637	Nov 08, 2017 (151)
71	AFFY	ss2985930002	Nov 08, 2017 (151)
72	SWEGEN	ss2995469311	Nov 08, 2017 (151)
73	ILLUMINA	ss3022411516	Nov 08, 2017 (151)
74	BIOINF_KMB_FNS_UNIBA	ss3025034705	Nov 08, 2017 (151)
75	CSHL	ss3345936813	Nov 08, 2017 (151)
76	ILLUMINA	ss3629056552	Oct 12, 2018 (152)
77	ILLUMINA	ss3629056553	Oct 12, 2018 (152)
78	ILLUMINA	ss3634969174	Oct 12, 2018 (152)
79	ILLUMINA	ss3636674643	Oct 12, 2018 (152)
80	ILLUMINA	ss3638509550	Oct 12, 2018 (152)
81	ILLUMINA	ss3639257051	Oct 12, 2018 (152)
82	ILLUMINA	ss3639650186	Oct 12, 2018 (152)
83	ILLUMINA	ss3640676467	Oct 12, 2018 (152)
84	ILLUMINA	ss3643459176	Oct 12, 2018 (152)
85	ILLUMINA	ss3644859276	Oct 12, 2018 (152)
86	ILLUMINA	ss3652900052	Oct 12, 2018 (152)
87	ILLUMINA	ss3652900053	Oct 12, 2018 (152)
88	ILLUMINA	ss3652900054	Oct 12, 2018 (152)
89	ILLUMINA	ss3654074419	Oct 12, 2018 (152)
90	EGCUT_WGS	ss3663371676	Jul 13, 2019 (153)
91	EVA_DECODE	ss3712962518	Jul 13, 2019 (153)
92	ILLUMINA	ss3726167499	Jul 13, 2019 (153)
93	ACPOP	ss3731562835	Jul 13, 2019 (153)
94	ILLUMINA	ss3744529398	Jul 13, 2019 (153)
95	ILLUMINA	ss3745269414	Jul 13, 2019 (153)
96	EVA	ss3762349267	Jul 13, 2019 (153)
97	PAGE_CC	ss3771151387	Jul 13, 2019 (153)
98	ILLUMINA	ss3772763908	Jul 13, 2019 (153)
99	KHV_HUMAN_GENOMES	ss3805504246	Jul 13, 2019 (153)
100	EVA	ss3828782726	Apr 26, 2020 (154)
101	EVA	ss3837835922	Apr 26, 2020 (154)
102	EVA	ss3843275106	Apr 26, 2020 (154)
103	HGDP	ss3847763512	Apr 26, 2020 (154)
104	SGDP_PRJ	ss3859943379	Apr 26, 2020 (154)
105	KRGDB	ss3906244084	Apr 26, 2020 (154)
106	KOGIC	ss3955025035	Apr 26, 2020 (154)
107	EVA	ss3984534412	Apr 26, 2021 (155)
108	EVA	ss3985093478	Apr 26, 2021 (155)
109	EVA	ss4017166636	Apr 26, 2021 (155)
110	TOPMED	ss4630162517	Apr 26, 2021 (155)
111	TOMMO_GENOMICS	ss5167769204	Apr 26, 2021 (155)
112	EVA	ss5237356237	Apr 26, 2021 (155)
113	1000G_HIGH_COVERAGE	ss5260838287	Oct 17, 2022 (156)
114	EVA	ss5314987532	Oct 17, 2022 (156)
115	EVA	ss5351961703	Oct 17, 2022 (156)
116	HUGCELL_USP	ss5459415656	Oct 17, 2022 (156)
117	EVA	ss5507708675	Oct 17, 2022 (156)
118	1000G_HIGH_COVERAGE	ss5542798583	Oct 17, 2022 (156)
119	SANFORD_IMAGENETICS	ss5624566431	Oct 17, 2022 (156)
120	SANFORD_IMAGENETICS	ss5635983934	Oct 17, 2022 (156)
121	TOMMO_GENOMICS	ss5702694724	Oct 17, 2022 (156)
122	YY_MCH	ss5805488691	Oct 17, 2022 (156)
123	EVA	ss5844639410	Oct 17, 2022 (156)
124	EVA	ss5847250221	Oct 17, 2022 (156)
125	EVA	ss5848023755	Oct 17, 2022 (156)
126	EVA	ss5854420908	Oct 17, 2022 (156)
127	EVA	ss5865297228	Oct 17, 2022 (156)
128	EVA	ss5964386246	Oct 17, 2022 (156)
129	EVA	ss5979713181	Oct 17, 2022 (156)
130	1000Genomes	NC_000004.11 - 123132492	Oct 12, 2018 (152)
131	1000Genomes_30x	NC_000004.12 - 122211337	Oct 17, 2022 (156)
132	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 123132492	Oct 12, 2018 (152)
133	Genome-wide autozygosity in Daghestan	NC_000004.10 - 123351942	Apr 26, 2020 (154)
134	Genetic variation in the Estonian population	NC_000004.11 - 123132492	Oct 12, 2018 (152)
135	The Danish reference pan genome	NC_000004.11 - 123132492	Apr 26, 2020 (154)
136	gnomAD - Genomes	NC_000004.12 - 122211337	Apr 26, 2021 (155)
137	Genome of the Netherlands Release 5	NC_000004.11 - 123132492	Apr 26, 2020 (154)
138	HGDP-CEPH-db Supplement 1	NC_000004.10 - 123351942	Apr 26, 2020 (154)
139	KOREAN population from KRGDB	NC_000004.11 - 123132492	Apr 26, 2020 (154)
140	Korean Genome Project	NC_000004.12 - 122211337	Apr 26, 2020 (154)
141	Northern Sweden	NC_000004.11 - 123132492	Jul 13, 2019 (153)
142	The PAGE Study	NC_000004.12 - 122211337	Jul 13, 2019 (153)
143	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000004.11 - 123132492	Apr 26, 2021 (155)
144	CNV burdens in cranial meningiomas	NC_000004.11 - 123132492	Apr 26, 2021 (155)
145	Qatari	NC_000004.11 - 123132492	Apr 26, 2020 (154)
146	SGDP_PRJ	NC_000004.11 - 123132492	Apr 26, 2020 (154)
147	Siberian	NC_000004.11 - 123132492	Apr 26, 2020 (154)
148	8.3KJPN	NC_000004.11 - 123132492	Apr 26, 2021 (155)
149	14KJPN	NC_000004.12 - 122211337	Oct 17, 2022 (156)
150	TopMed	NC_000004.12 - 122211337	Apr 26, 2021 (155)
151	UK 10K study - Twins	NC_000004.11 - 123132492	Oct 12, 2018 (152)
152	A Vietnamese Genetic Variation Database	NC_000004.11 - 123132492	Jul 13, 2019 (153)
153	ALFA	NC_000004.12 - 122211337	Apr 26, 2021 (155)

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)
rs52821759	Sep 21, 2007 (128)
rs61199023	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss78252380, ss3639257051, ss3639650186	NC_000004.9:123490096:A:G	NC_000004.12:122211336:A:G	(self)
363065, 441404, ss92756228, ss108295937, ss162504631, ss277907446, ss284996803, ss293178190, ss825514544, ss1397387719, ss1590128210, ss1712703656, ss2094935556, ss3643459176, ss3847763512	NC_000004.10:123351941:A:G	NC_000004.12:122211336:A:G	(self)
23071659, 12835886, 9109924, 6919080, 5679855, 13421478, 4847700, 319405, 83773, 5905376, 11960359, 3162430, 25738511, 12835886, 2824342, ss221184630, ss232577872, ss239828438, ss479408016, ss491360286, ss537241464, ss557820467, ss651629671, ss780685103, ss783358580, ss832986267, ss980620414, ss1071914264, ss1311604846, ss1580754141, ss1611066918, ss1654060951, ss1752495702, ss1917784358, ss1923863446, ss1946126452, ss1958717425, ss1969855375, ss2022515193, ss2095148803, ss2095148804, ss2150646076, ss2625754439, ss2634172226, ss2706129992, ss2814654209, ss2985302637, ss2985930002, ss2995469311, ss3022411516, ss3345936813, ss3629056552, ss3629056553, ss3634969174, ss3636674643, ss3638509550, ss3640676467, ss3644859276, ss3652900052, ss3652900053, ss3652900054, ss3654074419, ss3663371676, ss3731562835, ss3744529398, ss3745269414, ss3762349267, ss3772763908, ss3828782726, ss3837835922, ss3859943379, ss3906244084, ss3984534412, ss3985093478, ss4017166636, ss5167769204, ss5237356237, ss5314987532, ss5351961703, ss5507708675, ss5624566431, ss5635983934, ss5844639410, ss5847250221, ss5848023755, ss5964386246, ss5979713181	NC_000004.11:123132491:A:G	NC_000004.12:122211336:A:G	(self)
30324518, 163434461, 11403036, 372856, 36531828, 467540073, 3690525429, ss2266713292, ss3025034705, ss3712962518, ss3726167499, ss3771151387, ss3805504246, ss3843275106, ss3955025035, ss4630162517, ss5260838287, ss5459415656, ss5542798583, ss5702694724, ss5805488691, ss5854420908, ss5865297228	NC_000004.12:122211336:A:G	NC_000004.12:122211336:A:G	(self)
ss19571517	NT_016354.16:47627622:A:G	NC_000004.12:122211336:A:G	(self)
ss6069205, ss23953723, ss44542863, ss66544707, ss67341532, ss67736830, ss69355986, ss70807281, ss71386996, ss74832321, ss75618071, ss79184026, ss84281647, ss120247236, ss120254162, ss122321690, ss139857702, ss154297897, ss157839950, ss159474804, ss161081256, ss161491966, ss171810155, ss173744266	NT_016354.19:47680212:A:G	NC_000004.12:122211336:A:G	(self)

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

19 citations for rs4505848

PMID	Title	Author	Year	Journal
17558408	A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.	van Heel DA et al.	2007	Nature genetics
17999365	Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases.	Zhernakova A et al.	2007	American journal of human genetics
19302705	Testing for the association of the KIAA1109/Tenr/IL2/IL21 gene region with rheumatoid arthritis in a European family-based study.	Teixeira VH et al.	2009	Arthritis research & therapy
19430480	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Barrett JC et al.	2009	Nature genetics
20203524	Genetic susceptibility to type 2 diabetes is associated with reduced prostate cancer risk.	Pierce BL et al.	2010	Human heredity
20453842	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Stahl EA et al.	2010	Nature genetics
20553587	Only one independent genetic association with rheumatoid arthritis within the KIAA1109-TENR-IL2-IL21 locus in Caucasian sample sets: confirmation of association of rs6822844 with rheumatoid arthritis at a genome-wide level of significance.	Hollis-Moffatt JE et al.	2010	Arthritis research & therapy
20587799	Genetics of type 1 diabetes: what's next?	Pociot F et al.	2010	Diabetes
20885991	Advances and challenges in biomarker development for type 1 diabetes prediction and prevention using omic technologies.	Carey C et al.	2010	Expert opinion on medical diagnostics
21765104	Evaluation of 19 autoimmune disease-associated loci with rheumatoid arthritis in a Colombian population: evidence for replication and gene-gene interaction.	Deshmukh HA et al.	2011	The Journal of rheumatology
21852963	Pervasive sharing of genetic effects in autoimmune disease.	Cotsapas C et al.	2011	PLoS genetics
21980299	A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.	Bradfield JP et al.	2011	PLoS genetics
22065918	CFH 184G as a genetic risk marker for anterior uveitis in Chinese females.	Yang MM et al.	2011	Molecular vision
22770979	Presence of multiple independent effects in risk loci of common complex human diseases.	Ke X et al.	2012	American journal of human genetics
22876110	Complement factor H and interleukin gene polymorphisms in patients with non-infectious intermediate and posterior uveitis.	Yang MM et al.	2012	Molecular vision
24367383	Evidence of stage- and age-related heterogeneity of non-HLA SNPs and risk of islet autoimmunity and type 1 diabetes: the diabetes autoimmunity study in the young.	Frederiksen BN et al.	2013	Clinical & developmental immunology
26904692	Genetic Risk Score Modelling for Disease Progression in New-Onset Type 1 Diabetes Patients: Increased Genetic Load of Islet-Expressed and Cytokine-Regulated Candidate Genes Predicts Poorer Glycemic Control.	Brorsson CA et al.	2016	Journal of diabetes research
30888520	Genetic Mechanisms Highlight Shared Pathways for the Pathogenesis of Polygenic Type 1 Diabetes and Monogenic Autoimmune Diabetes.	Johnson MB et al.	2019	Current diabetes reports
31454755	IL-17, IL-21 and IL-22 polymorphisms in rheumatoid arthritis: A systematic review and meta-analysis.	Agonia I et al.	2020	Cytokine

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

Genome context:

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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

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs4505848