Name: rs10262453
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.

rs10262453

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:33216427 (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>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.269957 (71455/264690, TOPMED)
C=0.310955 (44665/143638, ALFA)
C=0.270147 (37840/140072, GnomAD) (+ 19 more)
C=0.23978 (18869/78694, PAGE_STUDY)
C=0.06894 (1948/28258, 14KJPN)
C=0.07041 (1180/16758, 8.3KJPN)
C=0.2061 (1320/6404, 1000G_30x)
C=0.1985 (994/5008, 1000G)
C=0.2795 (1252/4480, Estonian)
C=0.3041 (1172/3854, ALSPAC)
C=0.3150 (1168/3708, TWINSUK)
C=0.0198 (58/2930, KOREAN)
C=0.0197 (36/1832, Korea1K)
C=0.296 (295/998, GoNL)
C=0.027 (21/792, PRJEB37584)
C=0.288 (173/600, NorthernSweden)
C=0.156 (50/320, HapMap)
C=0.259 (56/216, Qatari)
A=0.384 (73/190, SGDP_PRJ)
C=0.42 (20/48, Ancient Sardinia)
C=0.45 (18/40, GENOME_DK)
A=0.44 (8/18, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: BBS9 : Intron 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	143638	A=0.689045	C=0.310955
European	Sub	123452	A=0.685797	C=0.314203
African	Sub	5968	A=0.8298	C=0.1702
African Others	Sub	208	A=0.875	C=0.125
African American	Sub	5760	A=0.8281	C=0.1719
Asian	Sub	656	A=0.966	C=0.034
East Asian	Sub	524	A=0.962	C=0.038
Other Asian	Sub	132	A=0.985	C=0.015
Latin American 1	Sub	738	A=0.715	C=0.285
Latin American 2	Sub	6272	A=0.5582	C=0.4418
South Asian	Sub	190	A=0.826	C=0.174
Other	Sub	6362	A=0.7133	C=0.2867

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=0.730043	C=0.269957
Allele Frequency Aggregator	Total	Global	143638	A=0.689045	C=0.310955
Allele Frequency Aggregator	European	Sub	123452	A=0.685797	C=0.314203
Allele Frequency Aggregator	Other	Sub	6362	A=0.7133	C=0.2867
Allele Frequency Aggregator	Latin American 2	Sub	6272	A=0.5582	C=0.4418
Allele Frequency Aggregator	African	Sub	5968	A=0.8298	C=0.1702
Allele Frequency Aggregator	Latin American 1	Sub	738	A=0.715	C=0.285
Allele Frequency Aggregator	Asian	Sub	656	A=0.966	C=0.034
Allele Frequency Aggregator	South Asian	Sub	190	A=0.826	C=0.174
gnomAD - Genomes	Global	Study-wide	140072	A=0.729853	C=0.270147
gnomAD - Genomes	European	Sub	75864	A=0.68884	C=0.31116
gnomAD - Genomes	African	Sub	41980	A=0.83242	C=0.16758
gnomAD - Genomes	American	Sub	13632	A=0.58165	C=0.41835
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	A=0.7569	C=0.2431
gnomAD - Genomes	East Asian	Sub	3130	A=0.9760	C=0.0240
gnomAD - Genomes	Other	Sub	2146	A=0.7139	C=0.2861
The PAGE Study	Global	Study-wide	78694	A=0.76022	C=0.23978
The PAGE Study	AfricanAmerican	Sub	32514	A=0.83087	C=0.16913
The PAGE Study	Mexican	Sub	10810	A=0.56623	C=0.43377
The PAGE Study	Asian	Sub	8318	A=0.9336	C=0.0664
The PAGE Study	PuertoRican	Sub	7918	A=0.6691	C=0.3309
The PAGE Study	NativeHawaiian	Sub	4534	A=0.9012	C=0.0988
The PAGE Study	Cuban	Sub	4230	A=0.6863	C=0.3137
The PAGE Study	Dominican	Sub	3826	A=0.7290	C=0.2710
The PAGE Study	CentralAmerican	Sub	2448	A=0.5425	C=0.4575
The PAGE Study	SouthAmerican	Sub	1980	A=0.5141	C=0.4859
The PAGE Study	NativeAmerican	Sub	1260	A=0.6675	C=0.3325
The PAGE Study	SouthAsian	Sub	856	A=0.771	C=0.229
14KJPN	JAPANESE	Study-wide	28258	A=0.93106	C=0.06894
8.3KJPN	JAPANESE	Study-wide	16758	A=0.92959	C=0.07041
1000Genomes_30x	Global	Study-wide	6404	A=0.7939	C=0.2061
1000Genomes_30x	African	Sub	1786	A=0.8679	C=0.1321
1000Genomes_30x	Europe	Sub	1266	A=0.6738	C=0.3262
1000Genomes_30x	South Asian	Sub	1202	A=0.8070	C=0.1930
1000Genomes_30x	East Asian	Sub	1170	A=0.9632	C=0.0368
1000Genomes_30x	American	Sub	980	A=0.596	C=0.404
1000Genomes	Global	Study-wide	5008	A=0.8015	C=0.1985
1000Genomes	African	Sub	1322	A=0.8744	C=0.1256
1000Genomes	East Asian	Sub	1008	A=0.9613	C=0.0387
1000Genomes	Europe	Sub	1006	A=0.6769	C=0.3231
1000Genomes	South Asian	Sub	978	A=0.809	C=0.191
1000Genomes	American	Sub	694	A=0.601	C=0.399
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.7205	C=0.2795
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.6959	C=0.3041
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.6850	C=0.3150
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.9802	C=0.0198
Korean Genome Project	KOREAN	Study-wide	1832	A=0.9803	C=0.0197
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.704	C=0.296
CNV burdens in cranial meningiomas	Global	Study-wide	792	A=0.973	C=0.027
CNV burdens in cranial meningiomas	CRM	Sub	792	A=0.973	C=0.027
Northern Sweden	ACPOP	Study-wide	600	A=0.712	C=0.288
HapMap	Global	Study-wide	320	A=0.844	C=0.156
HapMap	African	Sub	118	A=0.890	C=0.110
HapMap	American	Sub	114	A=0.711	C=0.289
HapMap	Asian	Sub	88	A=0.95	C=0.05
Qatari	Global	Study-wide	216	A=0.741	C=0.259
SGDP_PRJ	Global	Study-wide	190	A=0.384	C=0.616
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	48	A=0.58	C=0.42
The Danish reference pan genome	Danish	Study-wide	40	A=0.55	C=0.45
Siberian	Global	Study-wide	18	A=0.44	C=0.56

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 7	NC_000007.14:g.33216427A>C
GRCh37.p13 chr 7	NC_000007.13:g.33256039A>C
BBS9 RefSeqGene	NG_009306.2:g.92184A>C

Gene: BBS9, Bardet-Biedl syndrome 9 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
BBS9 transcript variant 3	NM_001033604.2:c.442+3883… NM_001033604.2:c.442+38836A>C	N/A	Intron Variant
BBS9 transcript variant 4	NM_001033605.2:c.442+3883… NM_001033605.2:c.442+38836A>C	N/A	Intron Variant
BBS9 transcript variant 5	NM_001348036.1:c.442+3883… NM_001348036.1:c.442+38836A>C	N/A	Intron Variant
BBS9 transcript variant 6	NM_001348037.3:c.76+38836… NM_001348037.3:c.76+38836A>C	N/A	Intron Variant
BBS9 transcript variant 7	NM_001348038.3:c.169+3883… NM_001348038.3:c.169+38836A>C	N/A	Intron Variant
BBS9 transcript variant 8	NM_001348039.3:c.169+3883… NM_001348039.3:c.169+38836A>C	N/A	Intron Variant
BBS9 transcript variant 9	NM_001348040.3:c.442+3883… NM_001348040.3:c.442+38836A>C	N/A	Intron Variant
BBS9 transcript variant 10	NM_001348041.4:c.442+3883… NM_001348041.4:c.442+38836A>C	N/A	Intron Variant
BBS9 transcript variant 11	NM_001348042.3:c.307+3883… NM_001348042.3:c.307+38836A>C	N/A	Intron Variant
BBS9 transcript variant 12	NM_001348043.3:c.442+3883… NM_001348043.3:c.442+38836A>C	N/A	Intron Variant
BBS9 transcript variant 13	NM_001348044.3:c.76+38836… NM_001348044.3:c.76+38836A>C	N/A	Intron Variant
BBS9 transcript variant 14	NM_001348045.3:c.76+38836… NM_001348045.3:c.76+38836A>C	N/A	Intron Variant
BBS9 transcript variant 15	NM_001348046.3:c.76+38836… NM_001348046.3:c.76+38836A>C	N/A	Intron Variant
BBS9 transcript variant 19	NM_001362679.1:c.442+3883… NM_001362679.1:c.442+38836A>C	N/A	Intron Variant
BBS9 transcript variant 1	NM_014451.4:c.442+38836A>C	N/A	Intron Variant
BBS9 transcript variant 2	NM_198428.3:c.442+38836A>C	N/A	Intron Variant
BBS9 transcript variant 16	NR_145411.1:n.	N/A	Intron Variant
BBS9 transcript variant 17	NR_145412.1:n.	N/A	Intron Variant
BBS9 transcript variant 18	NR_145413.3:n.	N/A	Intron Variant
BBS9 transcript variant X11	XM_005249701.4:c.442+3883… XM_005249701.4:c.442+38836A>C	N/A	Intron Variant
BBS9 transcript variant X1	XM_011515265.3:c.442+3883… XM_011515265.3:c.442+38836A>C	N/A	Intron Variant
BBS9 transcript variant X2	XM_011515266.4:c.442+3883… XM_011515266.4:c.442+38836A>C	N/A	Intron Variant
BBS9 transcript variant X6	XM_011515267.4:c.442+3883… XM_011515267.4:c.442+38836A>C	N/A	Intron Variant
BBS9 transcript variant X9	XM_011515269.3:c.169+3883… XM_011515269.3:c.169+38836A>C	N/A	Intron Variant
BBS9 transcript variant X10	XM_011515270.4:c.442+3883… XM_011515270.4:c.442+38836A>C	N/A	Intron Variant
BBS9 transcript variant X3	XM_017011990.2:c.442+3883… XM_017011990.2:c.442+38836A>C	N/A	Intron Variant
BBS9 transcript variant X12	XM_017011994.3:c.442+3883… XM_017011994.3:c.442+38836A>C	N/A	Intron Variant
BBS9 transcript variant X4	XM_047420201.1:c.442+3883… XM_047420201.1:c.442+38836A>C	N/A	Intron Variant
BBS9 transcript variant X5	XM_047420202.1:c.442+3883… XM_047420202.1:c.442+38836A>C	N/A	Intron Variant
BBS9 transcript variant X7	XM_047420203.1:c.442+3883… XM_047420203.1:c.442+38836A>C	N/A	Intron Variant
BBS9 transcript variant X8	XM_047420204.1:c.442+3883… XM_047420204.1:c.442+38836A>C	N/A	Intron Variant
BBS9 transcript variant X13	XR_001744634.3: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=	C
GRCh38.p14 chr 7	NC_000007.14:g.33216427=	NC_000007.14:g.33216427A>C
GRCh37.p13 chr 7	NC_000007.13:g.33256039=	NC_000007.13:g.33256039A>C
BBS9 RefSeqGene	NG_009306.2:g.92184=	NG_009306.2:g.92184A>C
BBS9 transcript variant 3	NM_001033604.1:c.442+38836=	NM_001033604.1:c.442+38836A>C
BBS9 transcript variant 3	NM_001033604.2:c.442+38836=	NM_001033604.2:c.442+38836A>C
BBS9 transcript variant 4	NM_001033605.1:c.442+38836=	NM_001033605.1:c.442+38836A>C
BBS9 transcript variant 4	NM_001033605.2:c.442+38836=	NM_001033605.2:c.442+38836A>C
BBS9 transcript variant 5	NM_001348036.1:c.442+38836=	NM_001348036.1:c.442+38836A>C
BBS9 transcript variant 6	NM_001348037.3:c.76+38836=	NM_001348037.3:c.76+38836A>C
BBS9 transcript variant 7	NM_001348038.3:c.169+38836=	NM_001348038.3:c.169+38836A>C
BBS9 transcript variant 8	NM_001348039.3:c.169+38836=	NM_001348039.3:c.169+38836A>C
BBS9 transcript variant 9	NM_001348040.3:c.442+38836=	NM_001348040.3:c.442+38836A>C
BBS9 transcript variant 10	NM_001348041.4:c.442+38836=	NM_001348041.4:c.442+38836A>C
BBS9 transcript variant 11	NM_001348042.3:c.307+38836=	NM_001348042.3:c.307+38836A>C
BBS9 transcript variant 12	NM_001348043.3:c.442+38836=	NM_001348043.3:c.442+38836A>C
BBS9 transcript variant 13	NM_001348044.3:c.76+38836=	NM_001348044.3:c.76+38836A>C
BBS9 transcript variant 14	NM_001348045.3:c.76+38836=	NM_001348045.3:c.76+38836A>C
BBS9 transcript variant 15	NM_001348046.3:c.76+38836=	NM_001348046.3:c.76+38836A>C
BBS9 transcript variant 19	NM_001362679.1:c.442+38836=	NM_001362679.1:c.442+38836A>C
BBS9 transcript variant 1	NM_014451.3:c.442+38836=	NM_014451.3:c.442+38836A>C
BBS9 transcript variant 1	NM_014451.4:c.442+38836=	NM_014451.4:c.442+38836A>C
BBS9 transcript variant 2	NM_198428.2:c.442+38836=	NM_198428.2:c.442+38836A>C
BBS9 transcript variant 2	NM_198428.3:c.442+38836=	NM_198428.3:c.442+38836A>C
BBS9 transcript variant X1	XM_005249700.1:c.442+38836=	XM_005249700.1:c.442+38836A>C
BBS9 transcript variant X9	XM_005249701.1:c.442+38836=	XM_005249701.1:c.442+38836A>C
BBS9 transcript variant X11	XM_005249701.4:c.442+38836=	XM_005249701.4:c.442+38836A>C
BBS9 transcript variant X1	XM_011515265.3:c.442+38836=	XM_011515265.3:c.442+38836A>C
BBS9 transcript variant X2	XM_011515266.4:c.442+38836=	XM_011515266.4:c.442+38836A>C
BBS9 transcript variant X6	XM_011515267.4:c.442+38836=	XM_011515267.4:c.442+38836A>C
BBS9 transcript variant X9	XM_011515269.3:c.169+38836=	XM_011515269.3:c.169+38836A>C
BBS9 transcript variant X10	XM_011515270.4:c.442+38836=	XM_011515270.4:c.442+38836A>C
BBS9 transcript variant X3	XM_017011990.2:c.442+38836=	XM_017011990.2:c.442+38836A>C
BBS9 transcript variant X12	XM_017011994.3:c.442+38836=	XM_017011994.3:c.442+38836A>C
BBS9 transcript variant X4	XM_047420201.1:c.442+38836=	XM_047420201.1:c.442+38836A>C
BBS9 transcript variant X5	XM_047420202.1:c.442+38836=	XM_047420202.1:c.442+38836A>C
BBS9 transcript variant X7	XM_047420203.1:c.442+38836=	XM_047420203.1:c.442+38836A>C
BBS9 transcript variant X8	XM_047420204.1:c.442+38836=	XM_047420204.1:c.442+38836A>C

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#.

98 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WUGSC_SSAHASNP	ss14132267	Dec 05, 2003 (119)
2	PERLEGEN	ss24446835	Sep 20, 2004 (123)
3	CSHL-HAPMAP	ss68422598	Jan 12, 2007 (127)
4	BCMHGSC_JDW	ss93657235	Mar 24, 2008 (129)
5	1000GENOMES	ss111785382	Jan 25, 2009 (130)
6	ENSEMBL	ss142826141	Dec 01, 2009 (131)
7	ILLUMINA	ss159884472	Dec 01, 2009 (131)
8	1000GENOMES	ss212019678	Jul 14, 2010 (132)
9	1000GENOMES	ss223002086	Jul 14, 2010 (132)
10	1000GENOMES	ss233919540	Jul 15, 2010 (132)
11	1000GENOMES	ss240885495	Jul 15, 2010 (132)
12	GMI	ss285602733	Apr 25, 2013 (138)
13	PJP	ss294044026	May 09, 2011 (134)
14	ILLUMINA	ss479242061	May 04, 2012 (137)
15	ILLUMINA	ss479244745	May 04, 2012 (137)
16	ILLUMINA	ss479603790	Sep 08, 2015 (146)
17	ILLUMINA	ss484421736	May 04, 2012 (137)
18	ILLUMINA	ss536596294	Sep 08, 2015 (146)
19	TISHKOFF	ss559915358	Apr 25, 2013 (138)
20	SSMP	ss654270123	Apr 25, 2013 (138)
21	ILLUMINA	ss778686802	Aug 21, 2014 (142)
22	ILLUMINA	ss782657328	Aug 21, 2014 (142)
23	ILLUMINA	ss783626439	Aug 21, 2014 (142)
24	ILLUMINA	ss831907762	Apr 01, 2015 (144)
25	ILLUMINA	ss834145468	Aug 21, 2014 (142)
26	EVA-GONL	ss984129353	Aug 21, 2014 (142)
27	JMKIDD_LAB	ss1074498279	Aug 21, 2014 (142)
28	1000GENOMES	ss1324580889	Aug 21, 2014 (142)
29	DDI	ss1431080178	Apr 01, 2015 (144)
30	EVA_GENOME_DK	ss1582142174	Apr 01, 2015 (144)
31	EVA_DECODE	ss1593700647	Apr 01, 2015 (144)
32	EVA_UK10K_ALSPAC	ss1617920346	Apr 01, 2015 (144)
33	EVA_UK10K_TWINSUK	ss1660914379	Apr 01, 2015 (144)
34	ILLUMINA	ss1752682950	Sep 08, 2015 (146)
35	WEILL_CORNELL_DGM	ss1927373625	Feb 12, 2016 (147)
36	ILLUMINA	ss1959001882	Feb 12, 2016 (147)
37	GENOMED	ss1970666524	Jul 19, 2016 (147)
38	JJLAB	ss2024366644	Sep 14, 2016 (149)
39	USC_VALOUEV	ss2152562197	Dec 20, 2016 (150)
40	HUMAN_LONGEVITY	ss2292990189	Dec 20, 2016 (150)
41	ILLUMINA	ss2634589841	Nov 08, 2017 (151)
42	ILLUMINA	ss2635171445	Nov 08, 2017 (151)
43	GRF	ss2708221209	Nov 08, 2017 (151)
44	GNOMAD	ss2851594627	Nov 08, 2017 (151)
45	AFFY	ss2986035486	Nov 08, 2017 (151)
46	SWEGEN	ss3000892243	Nov 08, 2017 (151)
47	ILLUMINA	ss3022724016	Nov 08, 2017 (151)
48	BIOINF_KMB_FNS_UNIBA	ss3025977772	Nov 08, 2017 (151)
49	CSHL	ss3347517744	Nov 08, 2017 (151)
50	ILLUMINA	ss3629788603	Oct 12, 2018 (152)
51	ILLUMINA	ss3632498128	Oct 12, 2018 (152)
52	ILLUMINA	ss3633458899	Oct 12, 2018 (152)
53	ILLUMINA	ss3634183601	Oct 12, 2018 (152)
54	ILLUMINA	ss3635115856	Oct 12, 2018 (152)
55	ILLUMINA	ss3635863524	Oct 12, 2018 (152)
56	ILLUMINA	ss3636847459	Oct 12, 2018 (152)
57	ILLUMINA	ss3637616474	Oct 12, 2018 (152)
58	ILLUMINA	ss3640823152	Oct 12, 2018 (152)
59	ILLUMINA	ss3653253967	Oct 12, 2018 (152)
60	EGCUT_WGS	ss3668818212	Jul 13, 2019 (153)
61	EVA_DECODE	ss3719422872	Jul 13, 2019 (153)
62	ILLUMINA	ss3726434687	Jul 13, 2019 (153)
63	ACPOP	ss3734506052	Jul 13, 2019 (153)
64	ILLUMINA	ss3745415807	Jul 13, 2019 (153)
65	EVA	ss3766390279	Jul 13, 2019 (153)
66	PAGE_CC	ss3771362525	Jul 13, 2019 (153)
67	ILLUMINA	ss3772908890	Jul 13, 2019 (153)
68	KHV_HUMAN_GENOMES	ss3809556320	Jul 13, 2019 (153)
69	EVA	ss3830501884	Apr 26, 2020 (154)
70	EVA	ss3838739294	Apr 26, 2020 (154)
71	EVA	ss3844190864	Apr 26, 2020 (154)
72	SGDP_PRJ	ss3866979817	Apr 26, 2020 (154)
73	KRGDB	ss3914027319	Apr 26, 2020 (154)
74	KOGIC	ss3961196303	Apr 26, 2020 (154)
75	EVA	ss3984586216	Apr 26, 2021 (155)
76	EVA	ss3985288372	Apr 26, 2021 (155)
77	EVA	ss4017329549	Apr 26, 2021 (155)
78	TOPMED	ss4741222832	Apr 26, 2021 (155)
79	TOMMO_GENOMICS	ss5182535882	Apr 26, 2021 (155)
80	EVA	ss5237418776	Apr 26, 2021 (155)
81	1000G_HIGH_COVERAGE	ss5272398415	Oct 14, 2022 (156)
82	EVA	ss5315238511	Oct 14, 2022 (156)
83	EVA	ss5372684863	Oct 14, 2022 (156)
84	HUGCELL_USP	ss5469625460	Oct 14, 2022 (156)
85	EVA	ss5508907004	Oct 14, 2022 (156)
86	1000G_HIGH_COVERAGE	ss5560324741	Oct 14, 2022 (156)
87	SANFORD_IMAGENETICS	ss5624659725	Oct 14, 2022 (156)
88	SANFORD_IMAGENETICS	ss5642673881	Oct 14, 2022 (156)
89	TOMMO_GENOMICS	ss5722194192	Oct 14, 2022 (156)
90	EVA	ss5799721036	Oct 14, 2022 (156)
91	YY_MCH	ss5808479624	Oct 14, 2022 (156)
92	EVA	ss5822632672	Oct 14, 2022 (156)
93	EVA	ss5847315903	Oct 14, 2022 (156)
94	EVA	ss5848134052	Oct 14, 2022 (156)
95	EVA	ss5855835319	Oct 14, 2022 (156)
96	EVA	ss5858359353	Oct 14, 2022 (156)
97	EVA	ss5971880307	Oct 14, 2022 (156)
98	EVA	ss5979822400	Oct 14, 2022 (156)
99	1000Genomes	NC_000007.13 - 33256039	Oct 12, 2018 (152)
100	1000Genomes_30x	NC_000007.14 - 33216427	Oct 14, 2022 (156)
101	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 33256039	Oct 12, 2018 (152)
102	Genetic variation in the Estonian population	NC_000007.13 - 33256039	Oct 12, 2018 (152)
103	The Danish reference pan genome	NC_000007.13 - 33256039	Apr 26, 2020 (154)
104	gnomAD - Genomes	NC_000007.14 - 33216427	Apr 26, 2021 (155)
105	Genome of the Netherlands Release 5	NC_000007.13 - 33256039	Apr 26, 2020 (154)
106	HapMap	NC_000007.14 - 33216427	Apr 26, 2020 (154)
107	KOREAN population from KRGDB	NC_000007.13 - 33256039	Apr 26, 2020 (154)
108	Korean Genome Project	NC_000007.14 - 33216427	Apr 26, 2020 (154)
109	Northern Sweden	NC_000007.13 - 33256039	Jul 13, 2019 (153)
110	The PAGE Study	NC_000007.14 - 33216427	Jul 13, 2019 (153)
111	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000007.13 - 33256039	Apr 26, 2021 (155)
112	CNV burdens in cranial meningiomas	NC_000007.13 - 33256039	Apr 26, 2021 (155)
113	Qatari	NC_000007.13 - 33256039	Apr 26, 2020 (154)
114	SGDP_PRJ	NC_000007.13 - 33256039	Apr 26, 2020 (154)
115	Siberian	NC_000007.13 - 33256039	Apr 26, 2020 (154)
116	8.3KJPN	NC_000007.13 - 33256039	Apr 26, 2021 (155)
117	14KJPN	NC_000007.14 - 33216427	Oct 14, 2022 (156)
118	TopMed	NC_000007.14 - 33216427	Apr 26, 2021 (155)
119	UK 10K study - Twins	NC_000007.13 - 33256039	Oct 12, 2018 (152)
120	ALFA	NC_000007.14 - 33216427	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)
rs17474768	Oct 08, 2004 (123)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss93657235, ss111785382, ss159884472, ss212019678, ss285602733, ss294044026, ss479242061, ss1593700647, ss2635171445	NC_000007.12:33222563:A:C	NC_000007.14:33216426:A:C	(self)
36531663, 20369167, 14556460, 8307113, 9083261, 21204713, 7790917, 514299, 135637, 9415555, 18996797, 5078551, 40505189, 20369167, ss223002086, ss233919540, ss240885495, ss479244745, ss479603790, ss484421736, ss536596294, ss559915358, ss654270123, ss778686802, ss782657328, ss783626439, ss831907762, ss834145468, ss984129353, ss1074498279, ss1324580889, ss1431080178, ss1582142174, ss1617920346, ss1660914379, ss1752682950, ss1927373625, ss1959001882, ss1970666524, ss2024366644, ss2152562197, ss2634589841, ss2708221209, ss2851594627, ss2986035486, ss3000892243, ss3022724016, ss3347517744, ss3629788603, ss3632498128, ss3633458899, ss3634183601, ss3635115856, ss3635863524, ss3636847459, ss3637616474, ss3640823152, ss3653253967, ss3668818212, ss3734506052, ss3745415807, ss3766390279, ss3772908890, ss3830501884, ss3838739294, ss3866979817, ss3914027319, ss3984586216, ss3985288372, ss4017329549, ss5182535882, ss5237418776, ss5315238511, ss5372684863, ss5508907004, ss5624659725, ss5642673881, ss5799721036, ss5822632672, ss5847315903, ss5848134052, ss5971880307, ss5979822400	NC_000007.13:33256038:A:C	NC_000007.14:33216426:A:C	(self)
47850676, 257566005, 3373538, 17574304, 583994, 56031296, 578600391, 12542761031, ss2292990189, ss3025977772, ss3719422872, ss3726434687, ss3771362525, ss3809556320, ss3844190864, ss3961196303, ss4741222832, ss5272398415, ss5469625460, ss5560324741, ss5722194192, ss5808479624, ss5855835319, ss5858359353	NC_000007.14:33216426:A:C	NC_000007.14:33216426:A:C	(self)
ss14132267	NT_007819.14:32549591:A:C	NC_000007.14:33216426:A:C	(self)
ss24446835, ss68422598, ss142826141	NT_007819.17:33246038:A:C	NC_000007.14:33216426:A:C	(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 rs10262453

PMID	Title	Author	Year	Journal
23160099	A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.	Justice CM et al.	2012	Nature genetics

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

rs10262453