Name: rs13344313
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.

rs13344313

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:18406957 (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=0.277111 (84280/304138, ALFA)
A=0.305675 (80909/264690, TOPMED)
A=0.312203 (43709/140002, GnomAD) (+ 21 more)
A=0.31635 (24897/78700, PAGE_STUDY)
A=0.20677 (5843/28258, 14KJPN)
A=0.20382 (3416/16760, 8.3KJPN)
A=0.2814 (1802/6404, 1000G_30x)
A=0.2772 (1388/5008, 1000G)
A=0.3377 (1513/4480, Estonian)
A=0.2865 (1104/3854, ALSPAC)
A=0.2697 (1000/3708, TWINSUK)
A=0.1588 (465/2928, KOREAN)
A=0.2462 (513/2084, HGDP_Stanford)
A=0.2828 (535/1892, HapMap)
A=0.2820 (313/1110, Daghestan)
A=0.272 (271/998, GoNL)
A=0.156 (123/790, PRJEB37584)
A=0.397 (238/600, NorthernSweden)
G=0.392 (98/250, SGDP_PRJ)
A=0.245 (53/216, Qatari)
A=0.093 (20/214, Vietnamese)
A=0.34 (30/88, Ancient Sardinia)
A=0.30 (12/40, GENOME_DK)
G=0.40 (8/20, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SSBP4 : 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	309174	G=0.722260	A=0.277740	0.52364	0.07912	0.397239	9
European	Sub	272342	G=0.722970	A=0.277030	0.523856	0.077917	0.398227	3
African	Sub	9524	G=0.6066	A=0.3934	0.366443	0.153297	0.48026	0
African Others	Sub	372	G=0.570	A=0.430	0.349462	0.209677	0.44086	1
African American	Sub	9152	G=0.6081	A=0.3919	0.367133	0.151005	0.481862	0
Asian	Sub	3932	G=0.8255	A=0.1745	0.682604	0.031536	0.28586	0
East Asian	Sub	3188	G=0.8422	A=0.1578	0.705144	0.020703	0.274153	1
Other Asian	Sub	744	G=0.754	A=0.246	0.586022	0.077957	0.336022	2
Latin American 1	Sub	1134	G=0.7108	A=0.2892	0.514991	0.093474	0.391534	1
Latin American 2	Sub	7220	G=0.7492	A=0.2508	0.562604	0.064266	0.37313	0
South Asian	Sub	5222	G=0.7637	A=0.2363	0.587897	0.060513	0.351589	1
Other	Sub	9800	G=0.7330	A=0.2670	0.544694	0.078776	0.376531	4

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
Allele Frequency Aggregator	Total	Global	304138	G=0.722889	A=0.277111
Allele Frequency Aggregator	European	Sub	269248	G=0.723155	A=0.276845
Allele Frequency Aggregator	Other	Sub	9000	G=0.7339	A=0.2661
Allele Frequency Aggregator	African	Sub	8382	G=0.6080	A=0.3920
Allele Frequency Aggregator	Latin American 2	Sub	7220	G=0.7492	A=0.2508
Allele Frequency Aggregator	South Asian	Sub	5222	G=0.7637	A=0.2363
Allele Frequency Aggregator	Asian	Sub	3932	G=0.8255	A=0.1745
Allele Frequency Aggregator	Latin American 1	Sub	1134	G=0.7108	A=0.2892
TopMed	Global	Study-wide	264690	G=0.694325	A=0.305675
gnomAD - Genomes	Global	Study-wide	140002	G=0.687797	A=0.312203
gnomAD - Genomes	European	Sub	75812	G=0.71247	A=0.28753
gnomAD - Genomes	African	Sub	41952	G=0.60288	A=0.39712
gnomAD - Genomes	American	Sub	13636	G=0.73797	A=0.26203
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.8037	A=0.1963
gnomAD - Genomes	East Asian	Sub	3130	G=0.8783	A=0.1217
gnomAD - Genomes	Other	Sub	2150	G=0.7000	A=0.3000
The PAGE Study	Global	Study-wide	78700	G=0.68365	A=0.31635
The PAGE Study	AfricanAmerican	Sub	32514	G=0.60635	A=0.39365
The PAGE Study	Mexican	Sub	10810	G=0.74172	A=0.25828
The PAGE Study	Asian	Sub	8318	G=0.8147	A=0.1853
The PAGE Study	PuertoRican	Sub	7918	G=0.7021	A=0.2979
The PAGE Study	NativeHawaiian	Sub	4534	G=0.6950	A=0.3050
The PAGE Study	Cuban	Sub	4230	G=0.7104	A=0.2896
The PAGE Study	Dominican	Sub	3828	G=0.6826	A=0.3174
The PAGE Study	CentralAmerican	Sub	2450	G=0.7576	A=0.2424
The PAGE Study	SouthAmerican	Sub	1982	G=0.7674	A=0.2326
The PAGE Study	NativeAmerican	Sub	1260	G=0.7365	A=0.2635
The PAGE Study	SouthAsian	Sub	856	G=0.771	A=0.229
14KJPN	JAPANESE	Study-wide	28258	G=0.79323	A=0.20677
8.3KJPN	JAPANESE	Study-wide	16760	G=0.79618	A=0.20382
1000Genomes_30x	Global	Study-wide	6404	G=0.7186	A=0.2814
1000Genomes_30x	African	Sub	1786	G=0.5616	A=0.4384
1000Genomes_30x	Europe	Sub	1266	G=0.7259	A=0.2741
1000Genomes_30x	South Asian	Sub	1202	G=0.7521	A=0.2479
1000Genomes_30x	East Asian	Sub	1170	G=0.8897	A=0.1103
1000Genomes_30x	American	Sub	980	G=0.750	A=0.250
1000Genomes	Global	Study-wide	5008	G=0.7228	A=0.2772
1000Genomes	African	Sub	1322	G=0.5658	A=0.4342
1000Genomes	East Asian	Sub	1008	G=0.8819	A=0.1181
1000Genomes	Europe	Sub	1006	G=0.7237	A=0.2763
1000Genomes	South Asian	Sub	978	G=0.755	A=0.245
1000Genomes	American	Sub	694	G=0.745	A=0.255
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.6623	A=0.3377
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.7135	A=0.2865
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.7303	A=0.2697
KOREAN population from KRGDB	KOREAN	Study-wide	2928	G=0.8412	A=0.1588
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	G=0.7538	A=0.2462
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	G=0.830	A=0.170
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	G=0.727	A=0.273
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	G=0.797	A=0.203
HGDP-CEPH-db Supplement 1	Europe	Sub	320	G=0.706	A=0.294
HGDP-CEPH-db Supplement 1	Africa	Sub	242	G=0.616	A=0.384
HGDP-CEPH-db Supplement 1	America	Sub	216	G=0.935	A=0.065
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	G=0.33	A=0.67
HapMap	Global	Study-wide	1892	G=0.7172	A=0.2828
HapMap	American	Sub	770	G=0.753	A=0.247
HapMap	African	Sub	692	G=0.630	A=0.370
HapMap	Asian	Sub	254	G=0.811	A=0.189
HapMap	Europe	Sub	176	G=0.767	A=0.233
Genome-wide autozygosity in Daghestan	Global	Study-wide	1110	G=0.7180	A=0.2820
Genome-wide autozygosity in Daghestan	Daghestan	Sub	626	G=0.708	A=0.292
Genome-wide autozygosity in Daghestan	Near_East	Sub	140	G=0.743	A=0.257
Genome-wide autozygosity in Daghestan	Central Asia	Sub	108	G=0.685	A=0.315
Genome-wide autozygosity in Daghestan	Europe	Sub	106	G=0.774	A=0.226
Genome-wide autozygosity in Daghestan	South Asian	Sub	94	G=0.73	A=0.27
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	G=0.69	A=0.31
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.728	A=0.272
CNV burdens in cranial meningiomas	Global	Study-wide	790	G=0.844	A=0.156
CNV burdens in cranial meningiomas	CRM	Sub	790	G=0.844	A=0.156
Northern Sweden	ACPOP	Study-wide	600	G=0.603	A=0.397
SGDP_PRJ	Global	Study-wide	250	G=0.392	A=0.608
Qatari	Global	Study-wide	216	G=0.755	A=0.245
A Vietnamese Genetic Variation Database	Global	Study-wide	214	G=0.907	A=0.093
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	88	G=0.66	A=0.34
The Danish reference pan genome	Danish	Study-wide	40	G=0.70	A=0.30
Siberian	Global	Study-wide	20	G=0.40	A=0.60

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 19	NC_000019.10:g.18406957G>A
GRCh37.p13 chr 19	NC_000019.9:g.18517767G>A

Gene: SSBP4, single stranded DNA binding protein 4 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SSBP4 transcript variant 2	NM_001009998.4:c.	N/A	Genic Upstream Transcript Variant
SSBP4 transcript variant 1	NM_032627.5:c.	N/A	Genic Upstream Transcript Variant
SSBP4 transcript variant X6	XM_047438368.1:c.44+4161G… XM_047438368.1:c.44+4161G>A	N/A	Intron Variant
SSBP4 transcript variant X11	XM_047438370.1:c.44+4161G… XM_047438370.1:c.44+4161G>A	N/A	Intron Variant
SSBP4 transcript variant X9	XM_005259790.4:c.	N/A	Genic Upstream Transcript Variant
SSBP4 transcript variant X1	XM_006722665.5:c.	N/A	Genic Upstream Transcript Variant
SSBP4 transcript variant X4	XM_006722666.3:c.	N/A	Genic Upstream Transcript Variant
SSBP4 transcript variant X8	XM_006722668.3:c.	N/A	Genic Upstream Transcript Variant
SSBP4 transcript variant X10	XM_017026437.2:c.	N/A	Genic Upstream Transcript Variant
SSBP4 transcript variant X2	XM_047438365.1:c.	N/A	Genic Upstream Transcript Variant
SSBP4 transcript variant X3	XM_047438366.1:c.	N/A	Genic Upstream Transcript Variant
SSBP4 transcript variant X5	XM_047438367.1:c.	N/A	Genic Upstream Transcript Variant
SSBP4 transcript variant X7	XM_047438369.1:c.	N/A	Genic Upstream Transcript Variant
SSBP4 transcript variant X12	XM_047438371.1:c.	N/A	Genic Upstream Transcript Variant
SSBP4 transcript variant X13	XM_047438372.1:c.	N/A	Genic Upstream Transcript Variant
SSBP4 transcript variant X14	XM_047438373.1:c.	N/A	Genic Upstream Transcript Variant
SSBP4 transcript variant X15	XM_047438374.1:c.	N/A	Genic Upstream Transcript Variant
SSBP4 transcript variant X17	XM_047438375.1:c.	N/A	Genic Upstream Transcript Variant
SSBP4 transcript variant X18	XM_047438376.1:c.	N/A	Genic Upstream Transcript Variant
SSBP4 transcript variant X19	XM_047438377.1:c.	N/A	Genic Upstream Transcript Variant
SSBP4 transcript variant X16	XR_936164.4:n.	N/A	Genic Upstream 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	G=	A
GRCh38.p14 chr 19	NC_000019.10:g.18406957=	NC_000019.10:g.18406957G>A
GRCh37.p13 chr 19	NC_000019.9:g.18517767=	NC_000019.9:g.18517767G>A
SSBP4 transcript variant X6	XM_047438368.1:c.44+4161=	XM_047438368.1:c.44+4161G>A
SSBP4 transcript variant X11	XM_047438370.1:c.44+4161=	XM_047438370.1:c.44+4161G>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#.

127 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss23007142	Apr 05, 2004 (121)
2	ABI	ss44180724	Mar 13, 2006 (126)
3	ILLUMINA	ss66638248	Nov 29, 2006 (127)
4	ILLUMINA	ss67074617	Nov 29, 2006 (127)
5	ILLUMINA	ss67404753	Nov 29, 2006 (127)
6	PERLEGEN	ss69225412	May 16, 2007 (127)
7	ILLUMINA	ss70422996	May 16, 2007 (127)
8	ILLUMINA	ss70602939	May 26, 2008 (130)
9	ILLUMINA	ss71148532	May 16, 2007 (127)
10	ILLUMINA	ss75546584	Dec 06, 2007 (129)
11	HGSV	ss81772961	Dec 15, 2007 (130)
12	KRIBB_YJKIM	ss85317572	Dec 15, 2007 (130)
13	HUMANGENOME_JCVI	ss96294191	Feb 06, 2009 (130)
14	1000GENOMES	ss114919926	Jan 25, 2009 (130)
15	ILLUMINA-UK	ss117656735	Feb 14, 2009 (130)
16	ILLUMINA	ss121641026	Dec 01, 2009 (131)
17	ENSEMBL	ss143315569	Dec 01, 2009 (131)
18	ILLUMINA	ss153360485	Dec 01, 2009 (131)
19	ILLUMINA	ss159254399	Dec 01, 2009 (131)
20	ILLUMINA	ss160332382	Dec 01, 2009 (131)
21	COMPLETE_GENOMICS	ss169252179	Jul 04, 2010 (132)
22	ILLUMINA	ss170358701	Jul 04, 2010 (132)
23	ILLUMINA	ss172396580	Jul 04, 2010 (132)
24	BUSHMAN	ss203699349	Jul 04, 2010 (132)
25	BCM-HGSC-SUB	ss208486416	Jul 04, 2010 (132)
26	1000GENOMES	ss228067719	Jul 14, 2010 (132)
27	1000GENOMES	ss237622364	Jul 15, 2010 (132)
28	1000GENOMES	ss243839965	Jul 15, 2010 (132)
29	ILLUMINA	ss244278806	Jul 04, 2010 (132)
30	BL	ss255539537	May 09, 2011 (134)
31	GMI	ss283145894	May 04, 2012 (137)
32	PJP	ss292222075	May 09, 2011 (134)
33	ILLUMINA	ss479914249	May 04, 2012 (137)
34	ILLUMINA	ss479921914	May 04, 2012 (137)
35	ILLUMINA	ss480548215	Sep 08, 2015 (146)
36	ILLUMINA	ss484755349	May 04, 2012 (137)
37	ILLUMINA	ss536848611	Sep 08, 2015 (146)
38	SSMP	ss661748463	Apr 25, 2013 (138)
39	ILLUMINA	ss778425658	Sep 08, 2015 (146)
40	ILLUMINA	ss782824380	Sep 08, 2015 (146)
41	ILLUMINA	ss783789309	Sep 08, 2015 (146)
42	ILLUMINA	ss825392270	Apr 01, 2015 (144)
43	ILLUMINA	ss832077750	Sep 08, 2015 (146)
44	ILLUMINA	ss832766647	Jul 13, 2019 (153)
45	ILLUMINA	ss833881086	Sep 08, 2015 (146)
46	EVA-GONL	ss994149709	Aug 21, 2014 (142)
47	JMKIDD_LAB	ss1081798467	Aug 21, 2014 (142)
48	1000GENOMES	ss1362592713	Aug 21, 2014 (142)
49	HAMMER_LAB	ss1397755581	Sep 08, 2015 (146)
50	DDI	ss1428354632	Apr 01, 2015 (144)
51	EVA_GENOME_DK	ss1578580324	Apr 01, 2015 (144)
52	EVA_UK10K_ALSPAC	ss1637678704	Apr 01, 2015 (144)
53	EVA_UK10K_TWINSUK	ss1680672737	Apr 01, 2015 (144)
54	EVA_DECODE	ss1698209229	Apr 01, 2015 (144)
55	EVA_SVP	ss1713654461	Apr 01, 2015 (144)
56	ILLUMINA	ss1752277376	Sep 08, 2015 (146)
57	WEILL_CORNELL_DGM	ss1937637125	Feb 12, 2016 (147)
58	ILLUMINA	ss1946531193	Feb 12, 2016 (147)
59	ILLUMINA	ss1959850179	Feb 12, 2016 (147)
60	GENOMED	ss1968615225	Jul 19, 2016 (147)
61	JJLAB	ss2029592015	Sep 14, 2016 (149)
62	ILLUMINA	ss2094803787	Dec 20, 2016 (150)
63	ILLUMINA	ss2095084379	Dec 20, 2016 (150)
64	USC_VALOUEV	ss2158120524	Dec 20, 2016 (150)
65	HUMAN_LONGEVITY	ss2224770942	Dec 20, 2016 (150)
66	ILLUMINA	ss2633525204	Nov 08, 2017 (151)
67	GRF	ss2702724762	Nov 08, 2017 (151)
68	ILLUMINA	ss2710878454	Nov 08, 2017 (151)
69	GNOMAD	ss2961171885	Nov 08, 2017 (151)
70	AFFY	ss2985768849	Nov 08, 2017 (151)
71	SWEGEN	ss3017207466	Nov 08, 2017 (151)
72	ILLUMINA	ss3021890784	Nov 08, 2017 (151)
73	BIOINF_KMB_FNS_UNIBA	ss3028628635	Nov 08, 2017 (151)
74	CSHL	ss3352228391	Nov 08, 2017 (151)
75	ILLUMINA	ss3625739212	Oct 12, 2018 (152)
76	ILLUMINA	ss3627904021	Oct 12, 2018 (152)
77	ILLUMINA	ss3631497690	Oct 12, 2018 (152)
78	ILLUMINA	ss3633176526	Oct 12, 2018 (152)
79	ILLUMINA	ss3633886581	Oct 12, 2018 (152)
80	ILLUMINA	ss3634728900	Oct 12, 2018 (152)
81	ILLUMINA	ss3635573499	Oct 12, 2018 (152)
82	ILLUMINA	ss3636416554	Oct 12, 2018 (152)
83	ILLUMINA	ss3637325215	Oct 12, 2018 (152)
84	ILLUMINA	ss3638220148	Oct 12, 2018 (152)
85	ILLUMINA	ss3639117157	Oct 12, 2018 (152)
86	ILLUMINA	ss3639568951	Oct 12, 2018 (152)
87	ILLUMINA	ss3640436208	Oct 12, 2018 (152)
88	ILLUMINA	ss3643193624	Oct 12, 2018 (152)
89	ILLUMINA	ss3644719773	Oct 12, 2018 (152)
90	URBANLAB	ss3650881126	Oct 12, 2018 (152)
91	ILLUMINA	ss3652316224	Oct 12, 2018 (152)
92	EGCUT_WGS	ss3684027754	Jul 13, 2019 (153)
93	EVA_DECODE	ss3702475487	Jul 13, 2019 (153)
94	ILLUMINA	ss3725716769	Jul 13, 2019 (153)
95	ACPOP	ss3742910282	Jul 13, 2019 (153)
96	ILLUMINA	ss3744164846	Jul 13, 2019 (153)
97	ILLUMINA	ss3745028936	Jul 13, 2019 (153)
98	EVA	ss3755884235	Jul 13, 2019 (153)
99	PAGE_CC	ss3772004456	Jul 13, 2019 (153)
100	ILLUMINA	ss3772526128	Jul 13, 2019 (153)
101	PACBIO	ss3788487242	Jul 13, 2019 (153)
102	PACBIO	ss3793404070	Jul 13, 2019 (153)
103	PACBIO	ss3798290830	Jul 13, 2019 (153)
104	KHV_HUMAN_GENOMES	ss3821138686	Jul 13, 2019 (153)
105	EVA	ss3835385887	Apr 27, 2020 (154)
106	HGDP	ss3847596399	Apr 27, 2020 (154)
107	SGDP_PRJ	ss3887900375	Apr 27, 2020 (154)
108	KRGDB	ss3937905074	Apr 27, 2020 (154)
109	EVA	ss3984740008	Apr 26, 2021 (155)
110	EVA	ss3985848591	Apr 26, 2021 (155)
111	EVA	ss4017818787	Apr 26, 2021 (155)
112	TOPMED	ss5069995184	Apr 26, 2021 (155)
113	TOMMO_GENOMICS	ss5227055091	Apr 26, 2021 (155)
114	1000G_HIGH_COVERAGE	ss5306725283	Oct 16, 2022 (156)
115	EVA	ss5315966286	Oct 16, 2022 (156)
116	EVA	ss5433949257	Oct 16, 2022 (156)
117	HUGCELL_USP	ss5499322476	Oct 16, 2022 (156)
118	EVA	ss5512053051	Oct 16, 2022 (156)
119	1000G_HIGH_COVERAGE	ss5612212949	Oct 16, 2022 (156)
120	SANFORD_IMAGENETICS	ss5662101401	Oct 16, 2022 (156)
121	TOMMO_GENOMICS	ss5785445286	Oct 16, 2022 (156)
122	EVA	ss5800005641	Oct 16, 2022 (156)
123	YY_MCH	ss5817463126	Oct 16, 2022 (156)
124	EVA	ss5840344215	Oct 16, 2022 (156)
125	EVA	ss5852229774	Oct 16, 2022 (156)
126	EVA	ss5927538543	Oct 16, 2022 (156)
127	EVA	ss5953518351	Oct 16, 2022 (156)
128	1000Genomes	NC_000019.9 - 18517767	Oct 12, 2018 (152)
129	1000Genomes_30x	NC_000019.10 - 18406957	Oct 16, 2022 (156)
130	The Avon Longitudinal Study of Parents and Children	NC_000019.9 - 18517767	Oct 12, 2018 (152)
131	Genome-wide autozygosity in Daghestan	NC_000019.8 - 18378767	Apr 27, 2020 (154)
132	Genetic variation in the Estonian population	NC_000019.9 - 18517767	Oct 12, 2018 (152)
133	The Danish reference pan genome	NC_000019.9 - 18517767	Apr 27, 2020 (154)
134	gnomAD - Genomes	NC_000019.10 - 18406957	Apr 26, 2021 (155)
135	Genome of the Netherlands Release 5	NC_000019.9 - 18517767	Apr 27, 2020 (154)
136	HGDP-CEPH-db Supplement 1	NC_000019.8 - 18378767	Apr 27, 2020 (154)
137	HapMap	NC_000019.10 - 18406957	Apr 27, 2020 (154)
138	KOREAN population from KRGDB	NC_000019.9 - 18517767	Apr 27, 2020 (154)
139	Northern Sweden	NC_000019.9 - 18517767	Jul 13, 2019 (153)
140	The PAGE Study	NC_000019.10 - 18406957	Jul 13, 2019 (153)
141	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000019.9 - 18517767	Apr 26, 2021 (155)
142	CNV burdens in cranial meningiomas	NC_000019.9 - 18517767	Apr 26, 2021 (155)
143	Qatari	NC_000019.9 - 18517767	Apr 27, 2020 (154)
144	SGDP_PRJ	NC_000019.9 - 18517767	Apr 27, 2020 (154)
145	Siberian	NC_000019.9 - 18517767	Apr 27, 2020 (154)
146	8.3KJPN	NC_000019.9 - 18517767	Apr 26, 2021 (155)
147	14KJPN	NC_000019.10 - 18406957	Oct 16, 2022 (156)
148	TopMed	NC_000019.10 - 18406957	Apr 26, 2021 (155)
149	UK 10K study - Twins	NC_000019.9 - 18517767	Oct 12, 2018 (152)
150	A Vietnamese Genetic Variation Database	NC_000019.9 - 18517767	Jul 13, 2019 (153)
151	ALFA	NC_000019.10 - 18406957	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)
rs60499264	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
225166, 274291, ss81772961, ss114919926, ss117656735, ss169252179, ss203699349, ss208486416, ss255539537, ss283145894, ss292222075, ss479914249, ss825392270, ss1397755581, ss1698209229, ss1713654461, ss3639117157, ss3639568951, ss3643193624, ss3847596399	NC_000019.8:18378766:G:A	NC_000019.10:18406956:G:A	(self)
75979706, 42089189, 29766002, 4765072, 18750321, 45082468, 16195147, 1074518, 289561, 19679047, 39917355, 10636878, 85024398, 42089189, 9301090, ss228067719, ss237622364, ss243839965, ss479921914, ss480548215, ss484755349, ss536848611, ss661748463, ss778425658, ss782824380, ss783789309, ss832077750, ss832766647, ss833881086, ss994149709, ss1081798467, ss1362592713, ss1428354632, ss1578580324, ss1637678704, ss1680672737, ss1752277376, ss1937637125, ss1946531193, ss1959850179, ss1968615225, ss2029592015, ss2094803787, ss2095084379, ss2158120524, ss2633525204, ss2702724762, ss2710878454, ss2961171885, ss2985768849, ss3017207466, ss3021890784, ss3352228391, ss3625739212, ss3627904021, ss3631497690, ss3633176526, ss3633886581, ss3634728900, ss3635573499, ss3636416554, ss3637325215, ss3638220148, ss3640436208, ss3644719773, ss3652316224, ss3684027754, ss3742910282, ss3744164846, ss3745028936, ss3755884235, ss3772526128, ss3788487242, ss3793404070, ss3798290830, ss3835385887, ss3887900375, ss3937905074, ss3984740008, ss3985848591, ss4017818787, ss5227055091, ss5315966286, ss5433949257, ss5512053051, ss5662101401, ss5800005641, ss5840344215, ss5953518351	NC_000019.9:18517766:G:A	NC_000019.10:18406956:G:A	(self)
99738884, 535867116, 1675254, 1225925, 119282390, 285540848, 5756264045, ss2224770942, ss3028628635, ss3650881126, ss3702475487, ss3725716769, ss3772004456, ss3821138686, ss5069995184, ss5306725283, ss5499322476, ss5612212949, ss5785445286, ss5817463126, ss5852229774, ss5927538543	NC_000019.10:18406956:G:A	NC_000019.10:18406956:G:A	(self)
ss23007142, ss44180724, ss66638248, ss67074617, ss67404753, ss69225412, ss70422996, ss70602939, ss71148532, ss75546584, ss85317572, ss96294191, ss121641026, ss143315569, ss153360485, ss159254399, ss160332382, ss170358701, ss172396580, ss244278806	NT_011295.11:9780568:G:A	NC_000019.10:18406956:G: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 rs13344313

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

rs13344313