Name: rs946443
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.

rs946443

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:54238029 (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: C>A
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.081839 (21662/264690, TOPMED)
A=0.074037 (10378/140174, GnomAD)
A=0.086006 (8828/102644, GnomAD_exome) (+ 22 more)
A=0.10386 (8174/78700, PAGE_STUDY)
A=0.06329 (2813/44448, ALFA)
A=0.06593 (1863/28258, 14KJPN)
A=0.06516 (1092/16760, 8.3KJPN)
A=0.1112 (751/6756, ExAC)
A=0.1163 (745/6404, 1000G_30x)
A=0.1154 (578/5008, 1000G)
A=0.0699 (313/4480, Estonian)
A=0.0467 (180/3854, ALSPAC)
A=0.0502 (186/3708, TWINSUK)
A=0.0695 (203/2922, KOREAN)
A=0.0693 (127/1832, Korea1K)
A=0.0744 (78/1048, HapMap)
A=0.036 (36/998, GoNL)
A=0.169 (106/626, Chileans)
A=0.025 (15/600, NorthernSweden)
A=0.052 (28/534, MGP)
A=0.042 (9/216, Qatari)
A=0.037 (8/216, Vietnamese)
C=0.463 (50/108, SGDP_PRJ)
C=0.5 (3/6, Siberian)
A=0.5 (3/6, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SSBP3-AS1 : Non Coding Transcript Variant
SSBP3 : Intron Variant
Publications: 0 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	44448	C=0.93671	A=0.06329	0.878735	0.00531	0.115956	6
European	Sub	32202	C=0.94712	A=0.05288	0.897522	0.003292	0.099186	1
African	Sub	4836	C=0.9084	A=0.0916	0.825476	0.008685	0.16584	0
African Others	Sub	144	C=0.854	A=0.146	0.722222	0.013889	0.263889	0
African American	Sub	4692	C=0.9101	A=0.0899	0.828645	0.008525	0.16283	0
Asian	Sub	260	C=0.950	A=0.050	0.907692	0.007692	0.084615	1
East Asian	Sub	176	C=0.960	A=0.040	0.920455	0.0	0.079545	0
Other Asian	Sub	84	C=0.93	A=0.07	0.880952	0.02381	0.095238	2
Latin American 1	Sub	270	C=0.863	A=0.137	0.740741	0.014815	0.244444	0
Latin American 2	Sub	1968	C=0.8714	A=0.1286	0.75813	0.015244	0.226626	0
South Asian	Sub	130	C=0.777	A=0.223	0.630769	0.076923	0.292308	1
Other	Sub	4782	C=0.9299	A=0.0701	0.868674	0.008783	0.122543	5

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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	C=0.918161	A=0.081839
gnomAD - Genomes	Global	Study-wide	140174	C=0.925963	A=0.074037
gnomAD - Genomes	European	Sub	75934	C=0.94738	A=0.05262
gnomAD - Genomes	African	Sub	41996	C=0.90194	A=0.09806
gnomAD - Genomes	American	Sub	13638	C=0.88092	A=0.11908
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.9070	A=0.0930
gnomAD - Genomes	East Asian	Sub	3130	C=0.9466	A=0.0534
gnomAD - Genomes	Other	Sub	2152	C=0.9238	A=0.0762
gnomAD - Exomes	Global	Study-wide	102644	C=0.913994	A=0.086006
gnomAD - Exomes	European	Sub	51944	C=0.94519	A=0.05481
gnomAD - Exomes	Asian	Sub	20720	C=0.86597	A=0.13403
gnomAD - Exomes	American	Sub	16804	C=0.88086	A=0.11914
gnomAD - Exomes	African	Sub	6244	C=0.8932	A=0.1068
gnomAD - Exomes	Ashkenazi Jewish	Sub	3946	C=0.9235	A=0.0765
gnomAD - Exomes	Other	Sub	2986	C=0.9220	A=0.0780
The PAGE Study	Global	Study-wide	78700	C=0.89614	A=0.10386
The PAGE Study	AfricanAmerican	Sub	32516	C=0.89953	A=0.10047
The PAGE Study	Mexican	Sub	10810	C=0.88178	A=0.11822
The PAGE Study	Asian	Sub	8318	C=0.9362	A=0.0638
The PAGE Study	PuertoRican	Sub	7918	C=0.8675	A=0.1325
The PAGE Study	NativeHawaiian	Sub	4532	C=0.9250	A=0.0750
The PAGE Study	Cuban	Sub	4230	C=0.9087	A=0.0913
The PAGE Study	Dominican	Sub	3828	C=0.9015	A=0.0985
The PAGE Study	CentralAmerican	Sub	2450	C=0.8404	A=0.1596
The PAGE Study	SouthAmerican	Sub	1982	C=0.8633	A=0.1367
The PAGE Study	NativeAmerican	Sub	1260	C=0.9167	A=0.0833
The PAGE Study	SouthAsian	Sub	856	C=0.791	A=0.209
Allele Frequency Aggregator	Total	Global	44448	C=0.93671	A=0.06329
Allele Frequency Aggregator	European	Sub	32202	C=0.94712	A=0.05288
Allele Frequency Aggregator	African	Sub	4836	C=0.9084	A=0.0916
Allele Frequency Aggregator	Other	Sub	4782	C=0.9299	A=0.0701
Allele Frequency Aggregator	Latin American 2	Sub	1968	C=0.8714	A=0.1286
Allele Frequency Aggregator	Latin American 1	Sub	270	C=0.863	A=0.137
Allele Frequency Aggregator	Asian	Sub	260	C=0.950	A=0.050
Allele Frequency Aggregator	South Asian	Sub	130	C=0.777	A=0.223
14KJPN	JAPANESE	Study-wide	28258	C=0.93407	A=0.06593
8.3KJPN	JAPANESE	Study-wide	16760	C=0.93484	A=0.06516
ExAC	Global	Study-wide	6756	C=0.8888	A=0.1112
ExAC	Europe	Sub	4118	C=0.9335	A=0.0665
ExAC	Asian	Sub	1566	C=0.7733	A=0.2267
ExAC	African	Sub	762	C=0.891	A=0.109
ExAC	American	Sub	216	C=0.875	A=0.125
ExAC	Other	Sub	94	C=0.87	A=0.13
1000Genomes_30x	Global	Study-wide	6404	C=0.8837	A=0.1163
1000Genomes_30x	African	Sub	1786	C=0.8774	A=0.1226
1000Genomes_30x	Europe	Sub	1266	C=0.9573	A=0.0427
1000Genomes_30x	South Asian	Sub	1202	C=0.7804	A=0.2196
1000Genomes_30x	East Asian	Sub	1170	C=0.9462	A=0.0538
1000Genomes_30x	American	Sub	980	C=0.852	A=0.148
1000Genomes	Global	Study-wide	5008	C=0.8846	A=0.1154
1000Genomes	African	Sub	1322	C=0.8752	A=0.1248
1000Genomes	East Asian	Sub	1008	C=0.9484	A=0.0516
1000Genomes	Europe	Sub	1006	C=0.9543	A=0.0457
1000Genomes	South Asian	Sub	978	C=0.776	A=0.224
1000Genomes	American	Sub	694	C=0.862	A=0.138
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9301	A=0.0699
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9533	A=0.0467
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9498	A=0.0502
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.9305	A=0.0695
Korean Genome Project	KOREAN	Study-wide	1832	C=0.9307	A=0.0693
HapMap	Global	Study-wide	1048	C=0.9256	A=0.0744
HapMap	African	Sub	396	C=0.894	A=0.106
HapMap	American	Sub	312	C=0.926	A=0.074
HapMap	Asian	Sub	170	C=0.959	A=0.041
HapMap	Europe	Sub	170	C=0.965	A=0.035
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.964	A=0.036
Chileans	Chilean	Study-wide	626	C=0.831	A=0.169
Northern Sweden	ACPOP	Study-wide	600	C=0.975	A=0.025
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.948	A=0.052
Qatari	Global	Study-wide	216	C=0.958	A=0.042
A Vietnamese Genetic Variation Database	Global	Study-wide	216	C=0.963	A=0.037
SGDP_PRJ	Global	Study-wide	108	C=0.463	A=0.537
Siberian	Global	Study-wide	6	C=0.5	A=0.5

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.54238029C>A
GRCh37.p13 chr 1	NC_000001.10:g.54703702C>A

Gene: SSBP3, single stranded DNA binding protein 3 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SSBP3 transcript variant 3	NM_001009955.4:c.846+1100… NM_001009955.4:c.846+1100G>T	N/A	Intron Variant
SSBP3 transcript variant 4	NM_001394360.1:c.870+1100… NM_001394360.1:c.870+1100G>T	N/A	Intron Variant
SSBP3 transcript variant 5	NM_001394361.1:c.807+1100… NM_001394361.1:c.807+1100G>T	N/A	Intron Variant
SSBP3 transcript variant 6	NM_001394362.1:c.786+1100… NM_001394362.1:c.786+1100G>T	N/A	Intron Variant
SSBP3 transcript variant 7	NM_001394363.1:c.696+1100… NM_001394363.1:c.696+1100G>T	N/A	Intron Variant
SSBP3 transcript variant 8	NM_001394364.1:c.597+1100… NM_001394364.1:c.597+1100G>T	N/A	Intron Variant
SSBP3 transcript variant 9	NM_001394365.1:c.516+1100… NM_001394365.1:c.516+1100G>T	N/A	Intron Variant
SSBP3 transcript variant 10	NM_001394366.1:c.516+1100… NM_001394366.1:c.516+1100G>T	N/A	Intron Variant
SSBP3 transcript variant 11	NM_001394367.1:c.480+1100… NM_001394367.1:c.480+1100G>T	N/A	Intron Variant
SSBP3 transcript variant 2	NM_018070.5:c.867+1100G>T	N/A	Intron Variant
SSBP3 transcript variant 1	NM_145716.4:c.927+1100G>T	N/A	Intron Variant
SSBP3 transcript variant X4	XM_017000897.3:c.597+1100… XM_017000897.3:c.597+1100G>T	N/A	Intron Variant
SSBP3 transcript variant X6	XM_017000898.3:c.597+1100… XM_017000898.3:c.597+1100G>T	N/A	Intron Variant
SSBP3 transcript variant X1	XM_047416692.1:c.597+1100… XM_047416692.1:c.597+1100G>T	N/A	Intron Variant
SSBP3 transcript variant X2	XM_047416693.1:c.516+1100… XM_047416693.1:c.516+1100G>T	N/A	Intron Variant
SSBP3 transcript variant X3	XM_047416695.1:c.456+1100… XM_047416695.1:c.456+1100G>T	N/A	Intron Variant
SSBP3 transcript variant X5	XM_047416697.1:c.516+1100… XM_047416697.1:c.516+1100G>T	N/A	Intron Variant

Gene: SSBP3-AS1, SSBP3 antisense RNA 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SSBP3-AS1 transcript	NR_103541.1:n.1587C>A	N/A	Non Coding Transcript 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	C=	A
GRCh38.p14 chr 1	NC_000001.11:g.54238029=	NC_000001.11:g.54238029C>A
GRCh37.p13 chr 1	NC_000001.10:g.54703702=	NC_000001.10:g.54703702C>A
SSBP3-AS1 transcript	NR_103541.1:n.1587=	NR_103541.1:n.1587C>A
SSBP3 transcript variant 3	NM_001009955.3:c.846+1100=	NM_001009955.3:c.846+1100G>T
SSBP3 transcript variant 3	NM_001009955.4:c.846+1100=	NM_001009955.4:c.846+1100G>T
SSBP3 transcript variant 4	NM_001394360.1:c.870+1100=	NM_001394360.1:c.870+1100G>T
SSBP3 transcript variant 5	NM_001394361.1:c.807+1100=	NM_001394361.1:c.807+1100G>T
SSBP3 transcript variant 6	NM_001394362.1:c.786+1100=	NM_001394362.1:c.786+1100G>T
SSBP3 transcript variant 7	NM_001394363.1:c.696+1100=	NM_001394363.1:c.696+1100G>T
SSBP3 transcript variant 8	NM_001394364.1:c.597+1100=	NM_001394364.1:c.597+1100G>T
SSBP3 transcript variant 9	NM_001394365.1:c.516+1100=	NM_001394365.1:c.516+1100G>T
SSBP3 transcript variant 10	NM_001394366.1:c.516+1100=	NM_001394366.1:c.516+1100G>T
SSBP3 transcript variant 11	NM_001394367.1:c.480+1100=	NM_001394367.1:c.480+1100G>T
SSBP3 transcript variant 2	NM_018070.4:c.867+1100=	NM_018070.4:c.867+1100G>T
SSBP3 transcript variant 2	NM_018070.5:c.867+1100=	NM_018070.5:c.867+1100G>T
SSBP3 transcript variant 1	NM_145716.3:c.927+1100=	NM_145716.3:c.927+1100G>T
SSBP3 transcript variant 1	NM_145716.4:c.927+1100=	NM_145716.4:c.927+1100G>T
SSBP3 transcript variant X1	XM_005270712.1:c.951+1100=	XM_005270712.1:c.951+1100G>T
SSBP3 transcript variant X2	XM_005270713.1:c.870+1100=	XM_005270713.1:c.870+1100G>T
SSBP3 transcript variant X3	XM_005270714.1:c.780+1100=	XM_005270714.1:c.780+1100G>T
SSBP3 transcript variant X4	XM_005270715.1:c.756+1100=	XM_005270715.1:c.756+1100G>T
SSBP3 transcript variant X4	XM_017000897.3:c.597+1100=	XM_017000897.3:c.597+1100G>T
SSBP3 transcript variant X6	XM_017000898.3:c.597+1100=	XM_017000898.3:c.597+1100G>T
SSBP3 transcript variant X1	XM_047416692.1:c.597+1100=	XM_047416692.1:c.597+1100G>T
SSBP3 transcript variant X2	XM_047416693.1:c.516+1100=	XM_047416693.1:c.516+1100G>T
SSBP3 transcript variant X3	XM_047416695.1:c.456+1100=	XM_047416695.1:c.456+1100G>T
SSBP3 transcript variant X5	XM_047416697.1:c.516+1100=	XM_047416697.1:c.516+1100G>T

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#.

75 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss1388369	Oct 05, 2000 (86)
2	ABI	ss44105404	Mar 15, 2006 (126)
3	AFFY	ss66179750	Dec 01, 2006 (127)
4	AFFY	ss76243256	Dec 06, 2007 (129)
5	KRIBB_YJKIM	ss81446543	Dec 15, 2007 (130)
6	COMPLETE_GENOMICS	ss166515556	Jul 04, 2010 (132)
7	AFFY	ss172948266	Jul 04, 2010 (132)
8	1000GENOMES	ss218381625	Jul 14, 2010 (132)
9	1000GENOMES	ss230531952	Jul 14, 2010 (132)
10	1000GENOMES	ss238226678	Jul 15, 2010 (132)
11	GMI	ss275823921	May 04, 2012 (137)
12	ILLUMINA	ss481937797	May 04, 2012 (137)
13	ILLUMINA	ss482358564	May 04, 2012 (137)
14	ILLUMINA	ss534443274	Sep 08, 2015 (146)
15	TISHKOFF	ss554105802	Apr 25, 2013 (138)
16	SSMP	ss647932656	Apr 25, 2013 (138)
17	ILLUMINA	ss779931191	Sep 08, 2015 (146)
18	ILLUMINA	ss781606738	Sep 08, 2015 (146)
19	ILLUMINA	ss835409613	Sep 08, 2015 (146)
20	EVA-GONL	ss975154123	Aug 21, 2014 (142)
21	JMKIDD_LAB	ss1067881498	Aug 21, 2014 (142)
22	1000GENOMES	ss1290870647	Aug 21, 2014 (142)
23	EVA_DECODE	ss1584520233	Apr 01, 2015 (144)
24	EVA_UK10K_ALSPAC	ss1600161580	Apr 01, 2015 (144)
25	EVA_UK10K_TWINSUK	ss1643155613	Apr 01, 2015 (144)
26	EVA_EXAC	ss1685559348	Apr 01, 2015 (144)
27	EVA_MGP	ss1710905783	Apr 01, 2015 (144)
28	EVA_SVP	ss1712332356	Apr 01, 2015 (144)
29	HAMMER_LAB	ss1794351754	Sep 08, 2015 (146)
30	WEILL_CORNELL_DGM	ss1918362933	Feb 12, 2016 (147)
31	ILLUMINA	ss1958272561	Feb 12, 2016 (147)
32	JJLAB	ss2019696592	Sep 14, 2016 (149)
33	USC_VALOUEV	ss2147710607	Dec 20, 2016 (150)
34	HUMAN_LONGEVITY	ss2162460550	Dec 20, 2016 (150)
35	SYSTEMSBIOZJU	ss2624360984	Nov 08, 2017 (151)
36	ILLUMINA	ss2632514362	Nov 08, 2017 (151)
37	GRF	ss2697622411	Nov 08, 2017 (151)
38	GNOMAD	ss2731516299	Nov 08, 2017 (151)
39	GNOMAD	ss2746337084	Nov 08, 2017 (151)
40	GNOMAD	ss2755092193	Nov 08, 2017 (151)
41	SWEGEN	ss2986807971	Nov 08, 2017 (151)
42	ILLUMINA	ss3021087365	Nov 08, 2017 (151)
43	CSHL	ss3343450658	Nov 08, 2017 (151)
44	ILLUMINA	ss3626096202	Oct 11, 2018 (152)
45	ILLUMINA	ss3630550647	Oct 11, 2018 (152)
46	ILLUMINA	ss3641588745	Oct 11, 2018 (152)
47	BIOINF_KMB_FNS_UNIBA	ss3645042393	Oct 11, 2018 (152)
48	ILLUMINA	ss3651413722	Oct 11, 2018 (152)
49	EGCUT_WGS	ss3654871800	Jul 12, 2019 (153)
50	EVA_DECODE	ss3686760096	Jul 12, 2019 (153)
51	ILLUMINA	ss3725024273	Jul 12, 2019 (153)
52	ACPOP	ss3727041495	Jul 12, 2019 (153)
53	EVA	ss3746196224	Jul 12, 2019 (153)
54	PAGE_CC	ss3770808529	Jul 12, 2019 (153)
55	KHV_HUMAN_GENOMES	ss3799205566	Jul 12, 2019 (153)
56	EVA	ss3825565270	Apr 25, 2020 (154)
57	SGDP_PRJ	ss3848834435	Apr 25, 2020 (154)
58	KRGDB	ss3893843173	Apr 25, 2020 (154)
59	KOGIC	ss3944499678	Apr 25, 2020 (154)
60	FSA-LAB	ss3983931984	Apr 25, 2021 (155)
61	EVA	ss3986120806	Apr 25, 2021 (155)
62	TOPMED	ss4449563094	Apr 25, 2021 (155)
63	TOMMO_GENOMICS	ss5143925435	Apr 25, 2021 (155)
64	1000G_HIGH_COVERAGE	ss5242249954	Oct 12, 2022 (156)
65	EVA	ss5314614685	Oct 12, 2022 (156)
66	EVA	ss5318689406	Oct 12, 2022 (156)
67	HUGCELL_USP	ss5443313610	Oct 12, 2022 (156)
68	1000G_HIGH_COVERAGE	ss5514517466	Oct 12, 2022 (156)
69	SANFORD_IMAGENETICS	ss5625517539	Oct 12, 2022 (156)
70	TOMMO_GENOMICS	ss5668691234	Oct 12, 2022 (156)
71	YY_MCH	ss5800590244	Oct 12, 2022 (156)
72	EVA	ss5831951110	Oct 12, 2022 (156)
73	EVA	ss5848261012	Oct 12, 2022 (156)
74	EVA	ss5908237218	Oct 12, 2022 (156)
75	EVA	ss5937348843	Oct 12, 2022 (156)
76	1000Genomes	NC_000001.10 - 54703702	Oct 11, 2018 (152)
77	1000Genomes_30x	NC_000001.11 - 54238029	Oct 12, 2022 (156)
78	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 54703702	Oct 11, 2018 (152)
79	Chileans	NC_000001.10 - 54703702	Apr 25, 2020 (154)
80	Genetic variation in the Estonian population	NC_000001.10 - 54703702	Oct 11, 2018 (152)
81	ExAC	NC_000001.10 - 54703702	Oct 11, 2018 (152)
82	gnomAD - Genomes	NC_000001.11 - 54238029	Apr 25, 2021 (155)
83	gnomAD - Exomes	NC_000001.10 - 54703702	Jul 12, 2019 (153)
84	Genome of the Netherlands Release 5	NC_000001.10 - 54703702	Apr 25, 2020 (154)
85	HapMap	NC_000001.11 - 54238029	Apr 25, 2020 (154)
86	KOREAN population from KRGDB	NC_000001.10 - 54703702	Apr 25, 2020 (154)
87	Korean Genome Project	NC_000001.11 - 54238029	Apr 25, 2020 (154)
88	Medical Genome Project healthy controls from Spanish population	NC_000001.10 - 54703702	Apr 25, 2020 (154)
89	Northern Sweden	NC_000001.10 - 54703702	Jul 12, 2019 (153)
90	The PAGE Study	NC_000001.11 - 54238029	Jul 12, 2019 (153)
91	Qatari	NC_000001.10 - 54703702	Apr 25, 2020 (154)
92	SGDP_PRJ	NC_000001.10 - 54703702	Apr 25, 2020 (154)
93	Siberian	NC_000001.10 - 54703702	Apr 25, 2020 (154)
94	8.3KJPN	NC_000001.10 - 54703702	Apr 25, 2021 (155)
95	14KJPN	NC_000001.11 - 54238029	Oct 12, 2022 (156)
96	TopMed	NC_000001.11 - 54238029	Apr 25, 2021 (155)
97	UK 10K study - Twins	NC_000001.10 - 54703702	Oct 11, 2018 (152)
98	A Vietnamese Genetic Variation Database	NC_000001.10 - 54703702	Jul 12, 2019 (153)
99	ALFA	NC_000001.11 - 54238029	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)
rs60137475	Feb 26, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss66179750, ss76243256, ss166515556, ss172948266, ss275823921, ss482358564, ss1584520233, ss1712332356	NC_000001.9:54476289:C:A	NC_000001.11:54238028:C:A	(self)
1588212, 863324, 8079, 610048, 4756928, 534586, 365816, 1020567, 22535, 326360, 404863, 851415, 226961, 1894742, 863324, 176740, ss218381625, ss230531952, ss238226678, ss481937797, ss534443274, ss554105802, ss647932656, ss779931191, ss781606738, ss835409613, ss975154123, ss1067881498, ss1290870647, ss1600161580, ss1643155613, ss1685559348, ss1710905783, ss1794351754, ss1918362933, ss1958272561, ss2019696592, ss2147710607, ss2624360984, ss2632514362, ss2697622411, ss2731516299, ss2746337084, ss2755092193, ss2986807971, ss3021087365, ss3343450658, ss3626096202, ss3630550647, ss3641588745, ss3651413722, ss3654871800, ss3727041495, ss3746196224, ss3825565270, ss3848834435, ss3893843173, ss3983931984, ss3986120806, ss5143925435, ss5314614685, ss5318689406, ss5625517539, ss5831951110, ss5848261012, ss5937348843	NC_000001.10:54703701:C:A	NC_000001.11:54238028:C:A	(self)
2043401, 11248424, 67026, 877679, 29998, 2528338, 13169429, 7950918979, ss2162460550, ss3645042393, ss3686760096, ss3725024273, ss3770808529, ss3799205566, ss3944499678, ss4449563094, ss5242249954, ss5443313610, ss5514517466, ss5668691234, ss5800590244, ss5908237218	NC_000001.11:54238028:C:A	NC_000001.11:54238028:C:A	(self)
ss1388369, ss44105404, ss81446543	NT_032977.9:24675619:C:A	NC_000001.11:54238028:C:A	(self)

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

No publications for rs946443

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs946443