Name: rs1052067
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.

rs1052067

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:156236330 (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: G>A
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.266103 (102425/384908, ALFA)
A=0.223892 (59262/264690, TOPMED)
A=0.232710 (58481/251304, GnomAD_exome) (+ 27 more)
A=0.233179 (32673/140120, GnomAD)
A=0.234446 (28391/121098, ExAC)
A=0.19377 (15247/78686, PAGE_STUDY)
A=0.26373 (7452/28256, 14KJPN)
A=0.26456 (4434/16760, 8.3KJPN)
A=0.23651 (3076/13006, GO-ESP)
A=0.1930 (1236/6404, 1000G_30x)
A=0.1937 (970/5008, 1000G)
A=0.2949 (1321/4480, Estonian)
A=0.2813 (1084/3854, ALSPAC)
A=0.2921 (1083/3708, TWINSUK)
A=0.1855 (542/2922, KOREAN)
A=0.1795 (374/2084, HGDP_Stanford)
A=0.1693 (320/1890, HapMap)
A=0.2005 (227/1132, Daghestan)
A=0.282 (281/998, GoNL)
A=0.159 (124/782, PRJEB37584)
A=0.227 (142/626, Chileans)
A=0.208 (127/612, Vietnamese)
A=0.295 (177/600, NorthernSweden)
A=0.257 (137/534, MGP)
A=0.286 (87/304, FINRISK)
A=0.199 (43/216, Qatari)
G=0.402 (74/184, SGDP_PRJ)
A=0.42 (36/86, Ancient Sardinia)
A=0.23 (9/40, GENOME_DK)
G=0.38 (10/26, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PMF1 : Missense Variant
PMF1-BGLAP : Missense Variant
Publications: 1 citation
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	401406	G=0.734717	A=0.265283
European	Sub	336278	G=0.721570	A=0.278430
African	Sub	17236	G=0.84648	A=0.15352
African Others	Sub	606	G=0.861	A=0.139
African American	Sub	16630	G=0.84594	A=0.15406
Asian	Sub	6978	G=0.8265	A=0.1735
East Asian	Sub	4990	G=0.8128	A=0.1872
Other Asian	Sub	1988	G=0.8607	A=0.1393
Latin American 1	Sub	1634	G=0.7258	A=0.2742
Latin American 2	Sub	9402	G=0.8179	A=0.1821
South Asian	Sub	5238	G=0.8288	A=0.1712
Other	Sub	24640	G=0.75885	A=0.24115

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	384908	G=0.733897	A=0.266103
Allele Frequency Aggregator	European	Sub	326070	G=0.721919	A=0.278081
Allele Frequency Aggregator	Other	Sub	23188	G=0.75983	A=0.24017
Allele Frequency Aggregator	African	Sub	12398	G=0.84562	A=0.15438
Allele Frequency Aggregator	Latin American 2	Sub	9402	G=0.8179	A=0.1821
Allele Frequency Aggregator	Asian	Sub	6978	G=0.8265	A=0.1735
Allele Frequency Aggregator	South Asian	Sub	5238	G=0.8288	A=0.1712
Allele Frequency Aggregator	Latin American 1	Sub	1634	G=0.7258	A=0.2742
TopMed	Global	Study-wide	264690	G=0.776108	A=0.223892
gnomAD - Exomes	Global	Study-wide	251304	G=0.767290	A=0.232710
gnomAD - Exomes	European	Sub	135270	G=0.721483	A=0.278517
gnomAD - Exomes	Asian	Sub	49006	G=0.82076	A=0.17924
gnomAD - Exomes	American	Sub	34578	G=0.83249	A=0.16751
gnomAD - Exomes	African	Sub	16244	G=0.85195	A=0.14805
gnomAD - Exomes	Ashkenazi Jewish	Sub	10072	G=0.77025	A=0.22975
gnomAD - Exomes	Other	Sub	6134	G=0.7537	A=0.2463
gnomAD - Genomes	Global	Study-wide	140120	G=0.766821	A=0.233179
gnomAD - Genomes	European	Sub	75882	G=0.71871	A=0.28129
gnomAD - Genomes	African	Sub	41984	G=0.84973	A=0.15027
gnomAD - Genomes	American	Sub	13654	G=0.76586	A=0.23414
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.7682	A=0.2318
gnomAD - Genomes	East Asian	Sub	3126	G=0.8260	A=0.1740
gnomAD - Genomes	Other	Sub	2152	G=0.7639	A=0.2361
ExAC	Global	Study-wide	121098	G=0.765554	A=0.234446
ExAC	Europe	Sub	73148	G=0.72204	A=0.27796
ExAC	Asian	Sub	25120	G=0.81931	A=0.18069
ExAC	American	Sub	11572	G=0.84843	A=0.15157
ExAC	African	Sub	10354	G=0.85117	A=0.14883
ExAC	Other	Sub	904	G=0.751	A=0.249
The PAGE Study	Global	Study-wide	78686	G=0.80623	A=0.19377
The PAGE Study	AfricanAmerican	Sub	32508	G=0.84321	A=0.15679
The PAGE Study	Mexican	Sub	10806	G=0.82371	A=0.17629
The PAGE Study	Asian	Sub	8318	G=0.7514	A=0.2486
The PAGE Study	PuertoRican	Sub	7918	G=0.7321	A=0.2679
The PAGE Study	NativeHawaiian	Sub	4534	G=0.7812	A=0.2188
The PAGE Study	Cuban	Sub	4228	G=0.7412	A=0.2588
The PAGE Study	Dominican	Sub	3828	G=0.8117	A=0.1883
The PAGE Study	CentralAmerican	Sub	2448	G=0.8354	A=0.1646
The PAGE Study	SouthAmerican	Sub	1982	G=0.8042	A=0.1958
The PAGE Study	NativeAmerican	Sub	1260	G=0.7532	A=0.2468
The PAGE Study	SouthAsian	Sub	856	G=0.828	A=0.172
14KJPN	JAPANESE	Study-wide	28256	G=0.73627	A=0.26373
8.3KJPN	JAPANESE	Study-wide	16760	G=0.73544	A=0.26456
GO Exome Sequencing Project	Global	Study-wide	13006	G=0.76349	A=0.23651
GO Exome Sequencing Project	European American	Sub	8600	G=0.7255	A=0.2745
GO Exome Sequencing Project	African American	Sub	4406	G=0.8377	A=0.1623
1000Genomes_30x	Global	Study-wide	6404	G=0.8070	A=0.1930
1000Genomes_30x	African	Sub	1786	G=0.8785	A=0.1215
1000Genomes_30x	Europe	Sub	1266	G=0.7259	A=0.2741
1000Genomes_30x	South Asian	Sub	1202	G=0.8170	A=0.1830
1000Genomes_30x	East Asian	Sub	1170	G=0.7974	A=0.2026
1000Genomes_30x	American	Sub	980	G=0.781	A=0.219
1000Genomes	Global	Study-wide	5008	G=0.8063	A=0.1937
1000Genomes	African	Sub	1322	G=0.8873	A=0.1127
1000Genomes	East Asian	Sub	1008	G=0.7927	A=0.2073
1000Genomes	Europe	Sub	1006	G=0.7227	A=0.2773
1000Genomes	South Asian	Sub	978	G=0.815	A=0.185
1000Genomes	American	Sub	694	G=0.781	A=0.219
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.7051	A=0.2949
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.7187	A=0.2813
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.7079	A=0.2921
KOREAN population from KRGDB	KOREAN	Study-wide	2922	G=0.8145	A=0.1855
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	G=0.8205	A=0.1795
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	G=0.806	A=0.194
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	G=0.853	A=0.147
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	G=0.743	A=0.257
HGDP-CEPH-db Supplement 1	Europe	Sub	320	G=0.741	A=0.259
HGDP-CEPH-db Supplement 1	Africa	Sub	242	G=0.909	A=0.091
HGDP-CEPH-db Supplement 1	America	Sub	216	G=0.875	A=0.125
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	G=1.00	A=0.00
HapMap	Global	Study-wide	1890	G=0.8307	A=0.1693
HapMap	American	Sub	770	G=0.800	A=0.200
HapMap	African	Sub	690	G=0.909	A=0.091
HapMap	Asian	Sub	254	G=0.756	A=0.244
HapMap	Europe	Sub	176	G=0.767	A=0.233
Genome-wide autozygosity in Daghestan	Global	Study-wide	1132	G=0.7995	A=0.2005
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	G=0.798	A=0.202
Genome-wide autozygosity in Daghestan	Near_East	Sub	142	G=0.796	A=0.204
Genome-wide autozygosity in Daghestan	Central Asia	Sub	120	G=0.817	A=0.183
Genome-wide autozygosity in Daghestan	Europe	Sub	108	G=0.759	A=0.241
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	G=0.87	A=0.13
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	G=0.72	A=0.28
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.718	A=0.282
CNV burdens in cranial meningiomas	Global	Study-wide	782	G=0.841	A=0.159
CNV burdens in cranial meningiomas	CRM	Sub	782	G=0.841	A=0.159
Chileans	Chilean	Study-wide	626	G=0.773	A=0.227
A Vietnamese Genetic Variation Database	Global	Study-wide	612	G=0.792	A=0.208
Northern Sweden	ACPOP	Study-wide	600	G=0.705	A=0.295
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.743	A=0.257
FINRISK	Finnish from FINRISK project	Study-wide	304	G=0.714	A=0.286
Qatari	Global	Study-wide	216	G=0.801	A=0.199
SGDP_PRJ	Global	Study-wide	184	G=0.402	A=0.598
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	86	G=0.58	A=0.42
The Danish reference pan genome	Danish	Study-wide	40	G=0.78	A=0.23
Siberian	Global	Study-wide	26	G=0.38	A=0.62

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 1	NC_000001.11:g.156236330G>A
GRCh37.p13 chr 1	NC_000001.10:g.156206121G>A

Gene: PMF1, polyamine modulated factor 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PMF1 transcript variant 3	NM_001199653.2:c.369-19G>A	N/A	Intron Variant
PMF1 transcript variant 5	NM_001393910.1:c.375-19G>A	N/A	Intron Variant
PMF1 transcript variant 6	NM_001393911.1:c.366-19G>A	N/A	Intron Variant
PMF1 transcript variant 7	NM_001393912.1:c.268-19G>A	N/A	Intron Variant
PMF1 transcript variant 8	NM_001393913.1:c.268-49G>A	N/A	Intron Variant
PMF1 transcript variant 10	NM_001393915.1:c.162-19G>A	N/A	Intron Variant
PMF1 transcript variant 9	NM_001393914.1:c.204G>A	M [ATG] > I [ATA]	Coding Sequence Variant
polyamine-modulated factor 1 isoform 9	NP_001380843.1:p.Met68Ile	M (Met) > I (Ile)	Missense Variant
PMF1 transcript variant 1	NM_001199654.2:c.417G>A	M [ATG] > I [ATA]	Coding Sequence Variant
polyamine-modulated factor 1 isoform 1	NP_001186583.1:p.Met139Ile	M (Met) > I (Ile)	Missense Variant
PMF1 transcript variant 4	NM_001393909.1:c.408G>A	M [ATG] > I [ATA]	Coding Sequence Variant
polyamine-modulated factor 1 isoform 4	NP_001380838.1:p.Met136Ile	M (Met) > I (Ile)	Missense Variant
PMF1 transcript variant 2	NM_007221.4:c.411G>A	M [ATG] > I [ATA]	Coding Sequence Variant
polyamine-modulated factor 1 isoform 2	NP_009152.2:p.Met137Ile	M (Met) > I (Ile)	Missense Variant

Gene: PMF1-BGLAP, PMF1-BGLAP readthrough (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PMF1-BGLAP transcript variant 1	NM_001199661.1:c.369-19G>A	N/A	Intron Variant
PMF1-BGLAP transcript variant 3	NM_001199663.1:c.368+2602… NM_001199663.1:c.368+2602G>A	N/A	Intron Variant
PMF1-BGLAP transcript variant 4	NM_001199664.1:c.204G>A	M [ATG] > I [ATA]	Coding Sequence Variant
PMF1-BGLAP protein isoform 4	NP_001186593.1:p.Met68Ile	M (Met) > I (Ile)	Missense Variant
PMF1-BGLAP transcript variant 2	NM_001199662.1:c.411G>A	M [ATG] > I [ATA]	Coding Sequence Variant
PMF1-BGLAP protein isoform 2	NP_001186591.1:p.Met137Ile	M (Met) > I (Ile)	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.

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	G=	A
GRCh38.p14 chr 1	NC_000001.11:g.156236330=	NC_000001.11:g.156236330G>A
GRCh37.p13 chr 1	NC_000001.10:g.156206121=	NC_000001.10:g.156206121G>A
PMF1 transcript variant 2	NM_007221.4:c.411=	NM_007221.4:c.411G>A
PMF1 transcript variant 2	NM_007221.3:c.411=	NM_007221.3:c.411G>A
PMF1 transcript variant 1	NM_001199654.2:c.417=	NM_001199654.2:c.417G>A
PMF1 transcript variant 1	NM_001199654.1:c.417=	NM_001199654.1:c.417G>A
PMF1 transcript variant 4	NM_001393909.1:c.408=	NM_001393909.1:c.408G>A
PMF1-BGLAP transcript variant 2	NM_001199662.1:c.411=	NM_001199662.1:c.411G>A
PMF1 transcript variant 9	NM_001393914.1:c.204=	NM_001393914.1:c.204G>A
PMF1-BGLAP transcript variant 4	NM_001199664.1:c.204=	NM_001199664.1:c.204G>A
polyamine-modulated factor 1 isoform 2	NP_009152.2:p.Met137=	NP_009152.2:p.Met137Ile
polyamine-modulated factor 1 isoform 1	NP_001186583.1:p.Met139=	NP_001186583.1:p.Met139Ile
polyamine-modulated factor 1 isoform 4	NP_001380838.1:p.Met136=	NP_001380838.1:p.Met136Ile
PMF1-BGLAP protein isoform 2	NP_001186591.1:p.Met137=	NP_001186591.1:p.Met137Ile
polyamine-modulated factor 1 isoform 9	NP_001380843.1:p.Met68=	NP_001380843.1:p.Met68Ile
PMF1-BGLAP protein isoform 4	NP_001186593.1:p.Met68=	NP_001186593.1:p.Met68Ile
PMF1 transcript variant 3	NM_001199653.1:c.369-19=	NM_001199653.1:c.369-19G>A
PMF1 transcript variant 3	NM_001199653.2:c.369-19=	NM_001199653.2:c.369-19G>A
PMF1-BGLAP transcript variant 1	NM_001199661.1:c.369-19=	NM_001199661.1:c.369-19G>A
PMF1-BGLAP transcript variant 3	NM_001199663.1:c.368+2602=	NM_001199663.1:c.368+2602G>A
PMF1 transcript variant 5	NM_001393910.1:c.375-19=	NM_001393910.1:c.375-19G>A
PMF1 transcript variant 6	NM_001393911.1:c.366-19=	NM_001393911.1:c.366-19G>A
PMF1 transcript variant 7	NM_001393912.1:c.268-19=	NM_001393912.1:c.268-19G>A
PMF1 transcript variant 8	NM_001393913.1:c.268-49=	NM_001393913.1:c.268-49G>A
PMF1 transcript variant 10	NM_001393915.1:c.162-19=	NM_001393915.1:c.162-19G>A

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#.

172 SubSNP, 30 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss3239836	Sep 28, 2001 (100)
2	SC_JCM	ss3863214	Sep 28, 2001 (100)
3	CSHL-HAPMAP	ss17355226	Feb 27, 2004 (120)
4	PERLEGEN	ss24638412	Sep 20, 2004 (123)
5	MGC_GENOME_DIFF	ss28510250	Sep 24, 2004 (126)
6	ABI	ss44127204	Mar 11, 2006 (126)
7	APPLERA_GI	ss48410223	Mar 11, 2006 (126)
8	ILLUMINA	ss65730351	Oct 16, 2006 (127)
9	AFFY	ss66480936	Dec 01, 2006 (127)
10	ILLUMINA	ss66666431	Dec 01, 2006 (127)
11	ILLUMINA	ss66895702	Dec 01, 2006 (127)
12	ILLUMINA	ss67004820	Dec 01, 2006 (127)
13	CSHL-HAPMAP	ss68427445	Jan 12, 2007 (127)
14	PERLEGEN	ss68780740	May 17, 2007 (127)
15	ILLUMINA	ss70376413	May 17, 2007 (127)
16	ILLUMINA	ss70491748	May 24, 2008 (130)
17	ILLUMINA	ss71016371	May 17, 2007 (127)
18	ILLUMINA	ss75579235	Dec 05, 2007 (129)
19	AFFY	ss76296540	Dec 05, 2007 (129)
20	HGSV	ss81478547	Dec 14, 2007 (130)
21	KRIBB_YJKIM	ss83674282	Dec 14, 2007 (130)
22	BCMHGSC_JDW	ss87827069	Mar 23, 2008 (129)
23	1000GENOMES	ss108605217	Jan 23, 2009 (130)
24	1000GENOMES	ss111167227	Jan 25, 2009 (130)
25	ILLUMINA	ss121369163	Dec 01, 2009 (131)
26	ILLUMINA	ss152791915	Dec 01, 2009 (131)
27	ILLUMINA	ss159136544	Dec 01, 2009 (131)
28	SEATTLESEQ	ss159699099	Dec 01, 2009 (131)
29	ILLUMINA	ss159909638	Dec 01, 2009 (131)
30	COMPLETE_GENOMICS	ss164138608	Jul 04, 2010 (132)
31	COMPLETE_GENOMICS	ss165235718	Jul 04, 2010 (132)
32	ILLUMINA	ss169560692	Jul 04, 2010 (132)
33	ILLUMINA	ss170365852	Jul 04, 2010 (132)
34	AFFY	ss173166044	Jul 04, 2010 (132)
35	BUSHMAN	ss199096865	Jul 04, 2010 (132)
36	BCM-HGSC-SUB	ss205311173	Jul 04, 2010 (132)
37	1000GENOMES	ss218654979	Jul 14, 2010 (132)
38	1000GENOMES	ss230734674	Jul 14, 2010 (132)
39	1000GENOMES	ss238381707	Jul 15, 2010 (132)
40	GMI	ss276054004	May 04, 2012 (137)
41	NHLBI-ESP	ss341999560	May 09, 2011 (134)
42	ILLUMINA	ss479316156	May 04, 2012 (137)
43	ILLUMINA	ss479319360	May 04, 2012 (137)
44	ILLUMINA	ss479704446	Sep 08, 2015 (146)
45	ILLUMINA	ss484458389	May 04, 2012 (137)
46	1000GENOMES	ss489768681	May 04, 2012 (137)
47	EXOME_CHIP	ss491302934	May 04, 2012 (137)
48	CLINSEQ_SNP	ss491605870	May 04, 2012 (137)
49	ILLUMINA	ss533236872	Sep 08, 2015 (146)
50	TISHKOFF	ss554713271	Apr 25, 2013 (138)
51	SSMP	ss648419644	Apr 25, 2013 (138)
52	ILLUMINA	ss778361266	Sep 08, 2015 (146)
53	ILLUMINA	ss780698892	Sep 08, 2015 (146)
54	ILLUMINA	ss782675754	Sep 08, 2015 (146)
55	ILLUMINA	ss783373023	Sep 08, 2015 (146)
56	ILLUMINA	ss783644406	Sep 08, 2015 (146)
57	ILLUMINA	ss825346024	Apr 01, 2015 (144)
58	ILLUMINA	ss831926485	Sep 08, 2015 (146)
59	ILLUMINA	ss832649205	Jul 12, 2019 (153)
60	ILLUMINA	ss833816042	Sep 08, 2015 (146)
61	EVA-GONL	ss975692159	Aug 21, 2014 (142)
62	JMKIDD_LAB	ss1067426813	Aug 21, 2014 (142)
63	JMKIDD_LAB	ss1068275222	Aug 21, 2014 (142)
64	1000GENOMES	ss1292966400	Aug 21, 2014 (142)
65	HAMMER_LAB	ss1397260153	Sep 08, 2015 (146)
66	DDI	ss1425980820	Apr 01, 2015 (144)
67	EVA_GENOME_DK	ss1574396605	Apr 01, 2015 (144)
68	EVA_FINRISK	ss1584011623	Apr 01, 2015 (144)
69	EVA_DECODE	ss1585073982	Apr 01, 2015 (144)
70	EVA_UK10K_ALSPAC	ss1601234442	Apr 01, 2015 (144)
71	EVA_UK10K_TWINSUK	ss1644228475	Apr 01, 2015 (144)
72	EVA_EXAC	ss1685829891	Apr 01, 2015 (144)
73	EVA_MGP	ss1710926560	Apr 01, 2015 (144)
74	EVA_SVP	ss1712371611	Apr 01, 2015 (144)
75	ILLUMINA	ss1751873201	Sep 08, 2015 (146)
76	ILLUMINA	ss1751873202	Sep 08, 2015 (146)
77	ILLUMINA	ss1917735818	Feb 12, 2016 (147)
78	WEILL_CORNELL_DGM	ss1918925689	Feb 12, 2016 (147)
79	ILLUMINA	ss1946010176	Feb 12, 2016 (147)
80	ILLUMINA	ss1958319240	Feb 12, 2016 (147)
81	JJLAB	ss2019977880	Sep 14, 2016 (149)
82	USC_VALOUEV	ss2148003526	Dec 20, 2016 (150)
83	HUMAN_LONGEVITY	ss2166627413	Dec 20, 2016 (150)
84	SYSTEMSBIOZJU	ss2624496794	Nov 08, 2017 (151)
85	ILLUMINA	ss2632577293	Nov 08, 2017 (151)
86	ILLUMINA	ss2635003430	Nov 08, 2017 (151)
87	GRF	ss2697976123	Nov 08, 2017 (151)
88	ILLUMINA	ss2710683130	Nov 08, 2017 (151)
89	GNOMAD	ss2731931154	Nov 08, 2017 (151)
90	GNOMAD	ss2746461535	Nov 08, 2017 (151)
91	GNOMAD	ss2761445071	Nov 08, 2017 (151)
92	AFFY	ss2984880147	Nov 08, 2017 (151)
93	AFFY	ss2985525374	Nov 08, 2017 (151)
94	SWEGEN	ss2987769507	Nov 08, 2017 (151)
95	ILLUMINA	ss3021137969	Nov 08, 2017 (151)
96	BIOINF_KMB_FNS_UNIBA	ss3023745829	Nov 08, 2017 (151)
97	CSHL	ss3343714289	Nov 08, 2017 (151)
98	ILLUMINA	ss3626211107	Oct 11, 2018 (152)
99	ILLUMINA	ss3626211108	Oct 11, 2018 (152)
100	ILLUMINA	ss3630610115	Oct 11, 2018 (152)
101	ILLUMINA	ss3632910367	Oct 11, 2018 (152)
102	ILLUMINA	ss3633605733	Oct 11, 2018 (152)
103	ILLUMINA	ss3634350794	Oct 11, 2018 (152)
104	ILLUMINA	ss3634350795	Oct 11, 2018 (152)
105	ILLUMINA	ss3635299171	Oct 11, 2018 (152)
106	ILLUMINA	ss3636030061	Oct 11, 2018 (152)
107	ILLUMINA	ss3637049665	Oct 11, 2018 (152)
108	ILLUMINA	ss3637788206	Oct 11, 2018 (152)
109	ILLUMINA	ss3638910747	Oct 11, 2018 (152)
110	ILLUMINA	ss3639453580	Oct 11, 2018 (152)
111	ILLUMINA	ss3640058148	Oct 11, 2018 (152)
112	ILLUMINA	ss3640058149	Oct 11, 2018 (152)
113	ILLUMINA	ss3642797430	Oct 11, 2018 (152)
114	ILLUMINA	ss3644506134	Oct 11, 2018 (152)
115	OMUKHERJEE_ADBS	ss3646246504	Oct 11, 2018 (152)
116	ILLUMINA	ss3651473058	Oct 11, 2018 (152)
117	ILLUMINA	ss3653649372	Oct 11, 2018 (152)
118	EGCUT_WGS	ss3655708553	Jul 12, 2019 (153)
119	EVA_DECODE	ss3687802987	Jul 12, 2019 (153)
120	ILLUMINA	ss3725066909	Jul 12, 2019 (153)
121	ACPOP	ss3727493252	Jul 12, 2019 (153)
122	ILLUMINA	ss3744353097	Jul 12, 2019 (153)
123	ILLUMINA	ss3744651695	Jul 12, 2019 (153)
124	ILLUMINA	ss3744651696	Jul 12, 2019 (153)
125	EVA	ss3746819581	Jul 12, 2019 (153)
126	PAGE_CC	ss3770842123	Jul 12, 2019 (153)
127	ILLUMINA	ss3772152808	Jul 12, 2019 (153)
128	ILLUMINA	ss3772152809	Jul 12, 2019 (153)
129	PACBIO	ss3783569126	Jul 12, 2019 (153)
130	PACBIO	ss3789199924	Jul 12, 2019 (153)
131	PACBIO	ss3794071929	Jul 12, 2019 (153)
132	KHV_HUMAN_GENOMES	ss3799819591	Jul 12, 2019 (153)
133	EVA	ss3823667667	Apr 25, 2020 (154)
134	EVA	ss3825576598	Apr 25, 2020 (154)
135	EVA	ss3826428359	Apr 25, 2020 (154)
136	EVA	ss3836608728	Apr 25, 2020 (154)
137	EVA	ss3842018004	Apr 25, 2020 (154)
138	HGDP	ss3847349691	Apr 25, 2020 (154)
139	SGDP_PRJ	ss3850026056	Apr 25, 2020 (154)
140	KRGDB	ss3895241062	Apr 25, 2020 (154)
141	FSA-LAB	ss3983948137	Apr 25, 2021 (155)
142	FSA-LAB	ss3983948138	Apr 25, 2021 (155)
143	EVA	ss3984464933	Apr 25, 2021 (155)
144	EVA	ss3984825919	Apr 25, 2021 (155)
145	EVA	ss3986140408	Apr 25, 2021 (155)
146	EVA	ss4016938743	Apr 25, 2021 (155)
147	TOPMED	ss4468695481	Apr 25, 2021 (155)
148	TOMMO_GENOMICS	ss5146537428	Apr 25, 2021 (155)
149	EVA	ss5236874067	Apr 25, 2021 (155)
150	EVA	ss5237164101	Apr 25, 2021 (155)
151	EVA	ss5237274169	Apr 25, 2021 (155)
152	1000G_HIGH_COVERAGE	ss5244329397	Oct 12, 2022 (156)
153	EVA	ss5314651621	Oct 12, 2022 (156)
154	EVA	ss5322117495	Oct 12, 2022 (156)
155	HUGCELL_USP	ss5444918101	Oct 12, 2022 (156)
156	1000G_HIGH_COVERAGE	ss5517676049	Oct 12, 2022 (156)
157	EVA	ss5623916667	Oct 12, 2022 (156)
158	EVA	ss5623998072	Oct 12, 2022 (156)
159	SANFORD_IMAGENETICS	ss5624218306	Oct 12, 2022 (156)
160	SANFORD_IMAGENETICS	ss5626610213	Oct 12, 2022 (156)
161	TOMMO_GENOMICS	ss5673752327	Oct 12, 2022 (156)
162	EVA	ss5799499085	Oct 12, 2022 (156)
163	YY_MCH	ss5801268041	Oct 12, 2022 (156)
164	EVA	ss5832678686	Oct 12, 2022 (156)
165	EVA	ss5847167001	Oct 12, 2022 (156)
166	EVA	ss5847557223	Oct 12, 2022 (156)
167	EVA	ss5848273574	Oct 12, 2022 (156)
168	EVA	ss5849111790	Oct 12, 2022 (156)
169	EVA	ss5910285213	Oct 12, 2022 (156)
170	EVA	ss5938404472	Oct 12, 2022 (156)
171	EVA	ss5979290589	Oct 12, 2022 (156)
172	EVA	ss5979990691	Oct 12, 2022 (156)
173	1000Genomes	NC_000001.10 - 156206121	Oct 11, 2018 (152)
174	1000Genomes_30x	NC_000001.11 - 156236330	Oct 12, 2022 (156)
175	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 156206121	Oct 11, 2018 (152)
176	Chileans	NC_000001.10 - 156206121	Apr 25, 2020 (154)
177	Genome-wide autozygosity in Daghestan	NC_000001.9 - 154472745	Apr 25, 2020 (154)
178	Genetic variation in the Estonian population	NC_000001.10 - 156206121	Oct 11, 2018 (152)
179	ExAC	NC_000001.10 - 156206121	Oct 11, 2018 (152)
180	FINRISK	NC_000001.10 - 156206121	Apr 25, 2020 (154)
181	The Danish reference pan genome	NC_000001.10 - 156206121	Apr 25, 2020 (154)
182	gnomAD - Genomes	NC_000001.11 - 156236330	Apr 25, 2021 (155)
183	gnomAD - Exomes	NC_000001.10 - 156206121	Jul 12, 2019 (153)
184	GO Exome Sequencing Project	NC_000001.10 - 156206121	Oct 11, 2018 (152)
185	Genome of the Netherlands Release 5	NC_000001.10 - 156206121	Apr 25, 2020 (154)
186	HGDP-CEPH-db Supplement 1	NC_000001.9 - 154472745	Apr 25, 2020 (154)
187	HapMap	NC_000001.11 - 156236330	Apr 25, 2020 (154)
188	KOREAN population from KRGDB	NC_000001.10 - 156206121	Apr 25, 2020 (154)
189	Medical Genome Project healthy controls from Spanish population	NC_000001.10 - 156206121	Apr 25, 2020 (154)
190	Northern Sweden	NC_000001.10 - 156206121	Jul 12, 2019 (153)
191	The PAGE Study	NC_000001.11 - 156236330	Jul 12, 2019 (153)
192	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000001.10 - 156206121	Apr 25, 2021 (155)
193	CNV burdens in cranial meningiomas	NC_000001.10 - 156206121	Apr 25, 2021 (155)
194	Qatari	NC_000001.10 - 156206121	Apr 25, 2020 (154)
195	SGDP_PRJ	NC_000001.10 - 156206121	Apr 25, 2020 (154)
196	Siberian	NC_000001.10 - 156206121	Apr 25, 2020 (154)
197	8.3KJPN	NC_000001.10 - 156206121	Apr 25, 2021 (155)
198	14KJPN	NC_000001.11 - 156236330	Oct 12, 2022 (156)
199	TopMed	NC_000001.11 - 156236330	Apr 25, 2021 (155)
200	UK 10K study - Twins	NC_000001.10 - 156206121	Oct 11, 2018 (152)
201	A Vietnamese Genetic Variation Database	NC_000001.10 - 156206121	Jul 12, 2019 (153)
202	ALFA	NC_000001.11 - 156236330	Apr 25, 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)
rs17355210	May 24, 2008 (130)
rs17401699	Oct 07, 2004 (123)
rs17855948	Mar 11, 2006 (126)
rs58132244	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss81478547, ss3638910747, ss3639453580	NC_000001.8:153019193:G:A	NC_000001.11:156236329:G:A	(self)
21410, 27583, ss87827069, ss108605217, ss111167227, ss164138608, ss165235718, ss199096865, ss205311173, ss276054004, ss479316156, ss491605870, ss825346024, ss1397260153, ss1585073982, ss1712371611, ss2635003430, ss3642797430, ss3847349691	NC_000001.9:154472744:G:A	NC_000001.11:156236329:G:A	(self)
3759869, 2043965, 21178, 1446801, 5050252, 8084, 1711498, 954727, 126251, 887081, 2418456, 43312, 778117, 51846, 14249, 967619, 2043036, 519880, 4506735, 2043965, 437941, ss218654979, ss230734674, ss238381707, ss341999560, ss479319360, ss479704446, ss484458389, ss489768681, ss491302934, ss533236872, ss554713271, ss648419644, ss778361266, ss780698892, ss782675754, ss783373023, ss783644406, ss831926485, ss832649205, ss833816042, ss975692159, ss1067426813, ss1068275222, ss1292966400, ss1425980820, ss1574396605, ss1584011623, ss1601234442, ss1644228475, ss1685829891, ss1710926560, ss1751873201, ss1751873202, ss1917735818, ss1918925689, ss1946010176, ss1958319240, ss2019977880, ss2148003526, ss2624496794, ss2632577293, ss2697976123, ss2710683130, ss2731931154, ss2746461535, ss2761445071, ss2984880147, ss2985525374, ss2987769507, ss3021137969, ss3343714289, ss3626211107, ss3626211108, ss3630610115, ss3632910367, ss3633605733, ss3634350794, ss3634350795, ss3635299171, ss3636030061, ss3637049665, ss3637788206, ss3640058148, ss3640058149, ss3644506134, ss3646246504, ss3651473058, ss3653649372, ss3655708553, ss3727493252, ss3744353097, ss3744651695, ss3744651696, ss3746819581, ss3772152808, ss3772152809, ss3783569126, ss3789199924, ss3794071929, ss3823667667, ss3825576598, ss3826428359, ss3836608728, ss3850026056, ss3895241062, ss3983948137, ss3983948138, ss3984464933, ss3984825919, ss3986140408, ss4016938743, ss5146537428, ss5237274169, ss5314651621, ss5322117495, ss5623916667, ss5623998072, ss5624218306, ss5626610213, ss5799499085, ss5832678686, ss5847167001, ss5847557223, ss5848273574, ss5938404472, ss5979290589, ss5979990691	NC_000001.10:156206120:G:A	NC_000001.11:156236329:G:A	(self)
5201984, 27383746, 178005, 63592, 7589431, 32301816, 3299394571, ss2166627413, ss3023745829, ss3687802987, ss3725066909, ss3770842123, ss3799819591, ss3842018004, ss4468695481, ss5236874067, ss5237164101, ss5244329397, ss5444918101, ss5517676049, ss5673752327, ss5801268041, ss5849111790, ss5910285213	NC_000001.11:156236329:G:A	NC_000001.11:156236329:G:A	(self)
ss3239836, ss3863214, ss24638412, ss28510250, ss44127204, ss48410223, ss65730351, ss66480936, ss66666431, ss66895702, ss67004820, ss68427445, ss68780740, ss70376413, ss70491748, ss71016371, ss75579235, ss76296540, ss83674282, ss121369163, ss152791915, ss159136544, ss159699099, ss159909638, ss169560692, ss170365852, ss173166044	NT_004487.19:7694762:G:A	NC_000001.11:156236329:G:A	(self)
ss17355226	NT_079484.1:2655952:G:A	NC_000001.11:156236329:G:A	(self)

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

1 citation for rs1052067

PMID	Title	Author	Year	Journal
35124268	Mendelian Randomization Analysis Reveals No Causal Relationship Between Nonalcoholic Fatty Liver Disease and Severe COVID-19.	Li J et al.	2022	Clinical gastroenterology and hepatology

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

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1052067