Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

dbSNP Short Genetic Variations

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.

rs10272438

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:33199222 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.188194 (49813/264690, TOPMED)
G=0.188965 (26432/139878, GnomAD)
G=0.06895 (1948/28254, 14KJPN) (+ 21 more)
G=0.21656 (4986/23024, ALFA)
G=0.07042 (1180/16756, 8.3KJPN)
G=0.1202 (770/6404, 1000G_30x)
G=0.1158 (580/5008, 1000G)
G=0.2571 (1152/4480, Estonian)
G=0.2335 (900/3854, ALSPAC)
G=0.2400 (890/3708, TWINSUK)
G=0.0198 (58/2930, KOREAN)
G=0.1915 (399/2084, HGDP_Stanford)
G=0.0197 (36/1832, Korea1K)
G=0.1011 (180/1780, HapMap)
G=0.1910 (217/1136, Daghestan)
G=0.236 (236/998, GoNL)
G=0.027 (21/792, PRJEB37584)
G=0.218 (131/600, NorthernSweden)
G=0.204 (44/216, Qatari)
G=0.014 (3/216, Vietnamese)
A=0.362 (50/138, SGDP_PRJ)
G=0.30 (12/40, GENOME_DK)
G=0.23 (6/26, Ancient Sardinia)
A=0.33 (4/12, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
BBS9 : Intron Variant
Publications
10 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 23024 A=0.78344 G=0.21656
European Sub 18348 A=0.75768 G=0.24232
African Sub 2950 A=0.9586 G=0.0414
African Others Sub 114 A=0.974 G=0.026
African American Sub 2836 A=0.9580 G=0.0420
Asian Sub 114 A=0.974 G=0.026
East Asian Sub 88 A=0.97 G=0.03
Other Asian Sub 26 A=1.00 G=0.00
Latin American 1 Sub 146 A=0.747 G=0.253
Latin American 2 Sub 610 A=0.654 G=0.346
South Asian Sub 100 A=0.92 G=0.08
Other Sub 756 A=0.790 G=0.210


Help

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 A=0.811806 G=0.188194
gnomAD - Genomes Global Study-wide 139878 A=0.811035 G=0.188965
gnomAD - Genomes European Sub 75650 A=0.75592 G=0.24408
gnomAD - Genomes African Sub 42016 A=0.94957 G=0.05043
gnomAD - Genomes American Sub 13626 A=0.65991 G=0.34009
gnomAD - Genomes Ashkenazi Jewish Sub 3314 A=0.7921 G=0.2079
gnomAD - Genomes East Asian Sub 3132 A=0.9764 G=0.0236
gnomAD - Genomes Other Sub 2140 A=0.7893 G=0.2107
14KJPN JAPANESE Study-wide 28254 A=0.93105 G=0.06895
Allele Frequency Aggregator Total Global 23024 A=0.78344 G=0.21656
Allele Frequency Aggregator European Sub 18348 A=0.75768 G=0.24232
Allele Frequency Aggregator African Sub 2950 A=0.9586 G=0.0414
Allele Frequency Aggregator Other Sub 756 A=0.790 G=0.210
Allele Frequency Aggregator Latin American 2 Sub 610 A=0.654 G=0.346
Allele Frequency Aggregator Latin American 1 Sub 146 A=0.747 G=0.253
Allele Frequency Aggregator Asian Sub 114 A=0.974 G=0.026
Allele Frequency Aggregator South Asian Sub 100 A=0.92 G=0.08
8.3KJPN JAPANESE Study-wide 16756 A=0.92958 G=0.07042
1000Genomes_30x Global Study-wide 6404 A=0.8798 G=0.1202
1000Genomes_30x African Sub 1786 A=0.9860 G=0.0140
1000Genomes_30x Europe Sub 1266 A=0.7591 G=0.2409
1000Genomes_30x South Asian Sub 1202 A=0.9334 G=0.0666
1000Genomes_30x East Asian Sub 1170 A=0.9658 G=0.0342
1000Genomes_30x American Sub 980 A=0.673 G=0.327
1000Genomes Global Study-wide 5008 A=0.8842 G=0.1158
1000Genomes African Sub 1322 A=0.9856 G=0.0144
1000Genomes East Asian Sub 1008 A=0.9633 G=0.0367
1000Genomes Europe Sub 1006 A=0.7624 G=0.2376
1000Genomes South Asian Sub 978 A=0.941 G=0.059
1000Genomes American Sub 694 A=0.673 G=0.327
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.7429 G=0.2571
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.7665 G=0.2335
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.7600 G=0.2400
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.9802 G=0.0198
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.8085 G=0.1915
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.951 G=0.049
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.841 G=0.159
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.743 G=0.257
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.747 G=0.253
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.992 G=0.008
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.370 G=0.630
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.99 G=0.01
Korean Genome Project KOREAN Study-wide 1832 A=0.9803 G=0.0197
HapMap Global Study-wide 1780 A=0.8989 G=0.1011
HapMap American Sub 766 A=0.863 G=0.137
HapMap African Sub 586 A=0.966 G=0.034
HapMap Asian Sub 254 A=0.941 G=0.059
HapMap Europe Sub 174 A=0.770 G=0.230
Genome-wide autozygosity in Daghestan Global Study-wide 1136 A=0.8090 G=0.1910
Genome-wide autozygosity in Daghestan Daghestan Sub 628 A=0.791 G=0.209
Genome-wide autozygosity in Daghestan Near_East Sub 144 A=0.847 G=0.153
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.811 G=0.189
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.778 G=0.222
Genome-wide autozygosity in Daghestan South Asian Sub 98 A=0.93 G=0.07
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=0.72 G=0.28
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.764 G=0.236
CNV burdens in cranial meningiomas Global Study-wide 792 A=0.973 G=0.027
CNV burdens in cranial meningiomas CRM Sub 792 A=0.973 G=0.027
Northern Sweden ACPOP Study-wide 600 A=0.782 G=0.218
Qatari Global Study-wide 216 A=0.796 G=0.204
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.986 G=0.014
SGDP_PRJ Global Study-wide 138 A=0.362 G=0.638
The Danish reference pan genome Danish Study-wide 40 A=0.70 G=0.30
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 26 A=0.77 G=0.23
Siberian Global Study-wide 12 A=0.33 G=0.67
Help

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.33199222A>G
GRCh37.p13 chr 7 NC_000007.13:g.33238834A>G
BBS9 RefSeqGene NG_009306.2:g.74979A>G
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+2163…

NM_001033604.2:c.442+21631A>G

N/A Intron Variant
BBS9 transcript variant 4 NM_001033605.2:c.442+2163…

NM_001033605.2:c.442+21631A>G

N/A Intron Variant
BBS9 transcript variant 5 NM_001348036.1:c.442+2163…

NM_001348036.1:c.442+21631A>G

N/A Intron Variant
BBS9 transcript variant 6 NM_001348037.3:c.76+21631…

NM_001348037.3:c.76+21631A>G

N/A Intron Variant
BBS9 transcript variant 7 NM_001348038.3:c.169+2163…

NM_001348038.3:c.169+21631A>G

N/A Intron Variant
BBS9 transcript variant 8 NM_001348039.3:c.169+2163…

NM_001348039.3:c.169+21631A>G

N/A Intron Variant
BBS9 transcript variant 9 NM_001348040.3:c.442+2163…

NM_001348040.3:c.442+21631A>G

N/A Intron Variant
BBS9 transcript variant 10 NM_001348041.4:c.442+2163…

NM_001348041.4:c.442+21631A>G

N/A Intron Variant
BBS9 transcript variant 11 NM_001348042.3:c.307+2163…

NM_001348042.3:c.307+21631A>G

N/A Intron Variant
BBS9 transcript variant 12 NM_001348043.3:c.442+2163…

NM_001348043.3:c.442+21631A>G

N/A Intron Variant
BBS9 transcript variant 13 NM_001348044.3:c.76+21631…

NM_001348044.3:c.76+21631A>G

N/A Intron Variant
BBS9 transcript variant 14 NM_001348045.3:c.76+21631…

NM_001348045.3:c.76+21631A>G

N/A Intron Variant
BBS9 transcript variant 15 NM_001348046.3:c.76+21631…

NM_001348046.3:c.76+21631A>G

N/A Intron Variant
BBS9 transcript variant 19 NM_001362679.1:c.442+2163…

NM_001362679.1:c.442+21631A>G

N/A Intron Variant
BBS9 transcript variant 1 NM_014451.4:c.442+21631A>G N/A Intron Variant
BBS9 transcript variant 2 NM_198428.3:c.442+21631A>G 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+2163…

XM_005249701.4:c.442+21631A>G

N/A Intron Variant
BBS9 transcript variant X1 XM_011515265.3:c.442+2163…

XM_011515265.3:c.442+21631A>G

N/A Intron Variant
BBS9 transcript variant X2 XM_011515266.4:c.442+2163…

XM_011515266.4:c.442+21631A>G

N/A Intron Variant
BBS9 transcript variant X6 XM_011515267.4:c.442+2163…

XM_011515267.4:c.442+21631A>G

N/A Intron Variant
BBS9 transcript variant X9 XM_011515269.3:c.169+2163…

XM_011515269.3:c.169+21631A>G

N/A Intron Variant
BBS9 transcript variant X10 XM_011515270.4:c.442+2163…

XM_011515270.4:c.442+21631A>G

N/A Intron Variant
BBS9 transcript variant X3 XM_017011990.2:c.442+2163…

XM_017011990.2:c.442+21631A>G

N/A Intron Variant
BBS9 transcript variant X12 XM_017011994.3:c.442+2163…

XM_017011994.3:c.442+21631A>G

N/A Intron Variant
BBS9 transcript variant X4 XM_047420201.1:c.442+2163…

XM_047420201.1:c.442+21631A>G

N/A Intron Variant
BBS9 transcript variant X5 XM_047420202.1:c.442+2163…

XM_047420202.1:c.442+21631A>G

N/A Intron Variant
BBS9 transcript variant X7 XM_047420203.1:c.442+2163…

XM_047420203.1:c.442+21631A>G

N/A Intron Variant
BBS9 transcript variant X8 XM_047420204.1:c.442+2163…

XM_047420204.1:c.442+21631A>G

N/A Intron Variant
BBS9 transcript variant X13 XR_001744634.3:n. N/A Intron Variant
Help

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
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement A= G
GRCh38.p14 chr 7 NC_000007.14:g.33199222= NC_000007.14:g.33199222A>G
GRCh37.p13 chr 7 NC_000007.13:g.33238834= NC_000007.13:g.33238834A>G
BBS9 RefSeqGene NG_009306.2:g.74979= NG_009306.2:g.74979A>G
BBS9 transcript variant 3 NM_001033604.1:c.442+21631= NM_001033604.1:c.442+21631A>G
BBS9 transcript variant 3 NM_001033604.2:c.442+21631= NM_001033604.2:c.442+21631A>G
BBS9 transcript variant 4 NM_001033605.1:c.442+21631= NM_001033605.1:c.442+21631A>G
BBS9 transcript variant 4 NM_001033605.2:c.442+21631= NM_001033605.2:c.442+21631A>G
BBS9 transcript variant 5 NM_001348036.1:c.442+21631= NM_001348036.1:c.442+21631A>G
BBS9 transcript variant 6 NM_001348037.3:c.76+21631= NM_001348037.3:c.76+21631A>G
BBS9 transcript variant 7 NM_001348038.3:c.169+21631= NM_001348038.3:c.169+21631A>G
BBS9 transcript variant 8 NM_001348039.3:c.169+21631= NM_001348039.3:c.169+21631A>G
BBS9 transcript variant 9 NM_001348040.3:c.442+21631= NM_001348040.3:c.442+21631A>G
BBS9 transcript variant 10 NM_001348041.4:c.442+21631= NM_001348041.4:c.442+21631A>G
BBS9 transcript variant 11 NM_001348042.3:c.307+21631= NM_001348042.3:c.307+21631A>G
BBS9 transcript variant 12 NM_001348043.3:c.442+21631= NM_001348043.3:c.442+21631A>G
BBS9 transcript variant 13 NM_001348044.3:c.76+21631= NM_001348044.3:c.76+21631A>G
BBS9 transcript variant 14 NM_001348045.3:c.76+21631= NM_001348045.3:c.76+21631A>G
BBS9 transcript variant 15 NM_001348046.3:c.76+21631= NM_001348046.3:c.76+21631A>G
BBS9 transcript variant 19 NM_001362679.1:c.442+21631= NM_001362679.1:c.442+21631A>G
BBS9 transcript variant 1 NM_014451.3:c.442+21631= NM_014451.3:c.442+21631A>G
BBS9 transcript variant 1 NM_014451.4:c.442+21631= NM_014451.4:c.442+21631A>G
BBS9 transcript variant 2 NM_198428.2:c.442+21631= NM_198428.2:c.442+21631A>G
BBS9 transcript variant 2 NM_198428.3:c.442+21631= NM_198428.3:c.442+21631A>G
BBS9 transcript variant X1 XM_005249700.1:c.442+21631= XM_005249700.1:c.442+21631A>G
BBS9 transcript variant X9 XM_005249701.1:c.442+21631= XM_005249701.1:c.442+21631A>G
BBS9 transcript variant X11 XM_005249701.4:c.442+21631= XM_005249701.4:c.442+21631A>G
BBS9 transcript variant X1 XM_011515265.3:c.442+21631= XM_011515265.3:c.442+21631A>G
BBS9 transcript variant X2 XM_011515266.4:c.442+21631= XM_011515266.4:c.442+21631A>G
BBS9 transcript variant X6 XM_011515267.4:c.442+21631= XM_011515267.4:c.442+21631A>G
BBS9 transcript variant X9 XM_011515269.3:c.169+21631= XM_011515269.3:c.169+21631A>G
BBS9 transcript variant X10 XM_011515270.4:c.442+21631= XM_011515270.4:c.442+21631A>G
BBS9 transcript variant X3 XM_017011990.2:c.442+21631= XM_017011990.2:c.442+21631A>G
BBS9 transcript variant X12 XM_017011994.3:c.442+21631= XM_017011994.3:c.442+21631A>G
BBS9 transcript variant X4 XM_047420201.1:c.442+21631= XM_047420201.1:c.442+21631A>G
BBS9 transcript variant X5 XM_047420202.1:c.442+21631= XM_047420202.1:c.442+21631A>G
BBS9 transcript variant X7 XM_047420203.1:c.442+21631= XM_047420203.1:c.442+21631A>G
BBS9 transcript variant X8 XM_047420204.1:c.442+21631= XM_047420204.1:c.442+21631A>G
Help

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#.

77 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 WUGSC_SSAHASNP ss14142266 Dec 05, 2003 (119)
2 PERLEGEN ss14873007 Dec 05, 2003 (120)
3 CSHL-HAPMAP ss19728371 Feb 27, 2004 (120)
4 PERLEGEN ss24446754 Sep 20, 2004 (123)
5 ABI ss44826938 Mar 15, 2006 (126)
6 AFFY ss65969291 Nov 29, 2006 (127)
7 ILLUMINA ss66548895 Nov 29, 2006 (127)
8 ILLUMINA ss66879539 Nov 29, 2006 (127)
9 ILLUMINA ss66968590 Nov 29, 2006 (127)
10 PERLEGEN ss69011959 May 16, 2007 (127)
11 ILLUMINA ss70363586 May 16, 2007 (127)
12 ILLUMINA ss70475223 May 26, 2008 (130)
13 ILLUMINA ss70997956 May 16, 2007 (127)
14 ILLUMINA ss75620151 Dec 07, 2007 (129)
15 KRIBB_YJKIM ss84931940 Dec 16, 2007 (130)
16 1000GENOMES ss111785152 Jan 25, 2009 (130)
17 ILLUMINA ss121293270 Dec 01, 2009 (131)
18 ILLUMINA ss152706444 Dec 01, 2009 (131)
19 ILLUMINA ss159119750 Dec 01, 2009 (131)
20 ILLUMINA ss169348230 Jul 04, 2010 (132)
21 ILLUMINA ss169963822 Jul 04, 2010 (132)
22 BCM-HGSC-SUB ss208151352 Jul 04, 2010 (132)
23 1000GENOMES ss233919482 Jul 15, 2010 (132)
24 GMI ss285602703 Apr 25, 2013 (138)
25 PJP ss294043999 May 09, 2011 (134)
26 SSMP ss654270033 Apr 25, 2013 (138)
27 ILLUMINA ss825333317 Jul 19, 2016 (147)
28 EVA-GONL ss984129221 Aug 21, 2014 (142)
29 JMKIDD_LAB ss1074498186 Aug 21, 2014 (142)
30 1000GENOMES ss1324580463 Aug 21, 2014 (142)
31 HAMMER_LAB ss1397490436 Sep 08, 2015 (146)
32 DDI ss1431080131 Apr 01, 2015 (144)
33 EVA_GENOME_DK ss1582142116 Apr 01, 2015 (144)
34 EVA_DECODE ss1593700513 Apr 01, 2015 (144)
35 EVA_UK10K_ALSPAC ss1617920087 Apr 01, 2015 (144)
36 EVA_UK10K_TWINSUK ss1660914120 Apr 01, 2015 (144)
37 EVA_SVP ss1712945230 Apr 01, 2015 (144)
38 WEILL_CORNELL_DGM ss1927373500 Feb 12, 2016 (147)
39 GENOMED ss1970666485 Jul 19, 2016 (147)
40 JJLAB ss2024366575 Sep 14, 2016 (149)
41 USC_VALOUEV ss2152562126 Dec 20, 2016 (150)
42 HUMAN_LONGEVITY ss2292989243 Dec 20, 2016 (150)
43 GRF ss2708221138 Nov 08, 2017 (151)
44 GNOMAD ss2851593299 Nov 08, 2017 (151)
45 SWEGEN ss3000892053 Nov 08, 2017 (151)
46 BIOINF_KMB_FNS_UNIBA ss3025977725 Nov 08, 2017 (151)
47 CSHL ss3347517684 Nov 08, 2017 (151)
48 ILLUMINA ss3639347779 Oct 12, 2018 (152)
49 ILLUMINA ss3639701693 Oct 12, 2018 (152)
50 ILLUMINA ss3643626895 Oct 12, 2018 (152)
51 EGCUT_WGS ss3668817969 Jul 13, 2019 (153)
52 EVA_DECODE ss3719422656 Jul 13, 2019 (153)
53 ACPOP ss3734505953 Jul 13, 2019 (153)
54 EVA ss3766390137 Jul 13, 2019 (153)
55 KHV_HUMAN_GENOMES ss3809556172 Jul 13, 2019 (153)
56 EVA ss3830501823 Apr 26, 2020 (154)
57 EVA ss3838739253 Apr 26, 2020 (154)
58 EVA ss3844190822 Apr 26, 2020 (154)
59 HGDP ss3847872527 Apr 26, 2020 (154)
60 SGDP_PRJ ss3866979612 Apr 26, 2020 (154)
61 KRGDB ss3914027088 Apr 26, 2020 (154)
62 KOGIC ss3961196078 Apr 26, 2020 (154)
63 EVA ss3984586214 Apr 26, 2021 (155)
64 EVA ss3985288364 Apr 26, 2021 (155)
65 TOPMED ss4741218885 Apr 26, 2021 (155)
66 TOMMO_GENOMICS ss5182535432 Apr 26, 2021 (155)
67 1000G_HIGH_COVERAGE ss5272398052 Oct 14, 2022 (156)
68 HUGCELL_USP ss5469625131 Oct 14, 2022 (156)
69 EVA ss5508906941 Oct 14, 2022 (156)
70 1000G_HIGH_COVERAGE ss5560324164 Oct 14, 2022 (156)
71 SANFORD_IMAGENETICS ss5642673662 Oct 14, 2022 (156)
72 TOMMO_GENOMICS ss5722193647 Oct 14, 2022 (156)
73 YY_MCH ss5808479526 Oct 14, 2022 (156)
74 EVA ss5822632515 Oct 14, 2022 (156)
75 EVA ss5855835253 Oct 14, 2022 (156)
76 EVA ss5858358907 Oct 14, 2022 (156)
77 EVA ss5971880056 Oct 14, 2022 (156)
78 1000Genomes NC_000007.13 - 33238834 Oct 12, 2018 (152)
79 1000Genomes_30x NC_000007.14 - 33199222 Oct 14, 2022 (156)
80 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 33238834 Oct 12, 2018 (152)
81 Genome-wide autozygosity in Daghestan NC_000007.12 - 33205359 Apr 26, 2020 (154)
82 Genetic variation in the Estonian population NC_000007.13 - 33238834 Oct 12, 2018 (152)
83 The Danish reference pan genome NC_000007.13 - 33238834 Apr 26, 2020 (154)
84 gnomAD - Genomes NC_000007.14 - 33199222 Apr 26, 2021 (155)
85 Genome of the Netherlands Release 5 NC_000007.13 - 33238834 Apr 26, 2020 (154)
86 HGDP-CEPH-db Supplement 1 NC_000007.12 - 33205359 Apr 26, 2020 (154)
87 HapMap NC_000007.14 - 33199222 Apr 26, 2020 (154)
88 KOREAN population from KRGDB NC_000007.13 - 33238834 Apr 26, 2020 (154)
89 Korean Genome Project NC_000007.14 - 33199222 Apr 26, 2020 (154)
90 Northern Sweden NC_000007.13 - 33238834 Jul 13, 2019 (153)
91 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000007.13 - 33238834 Apr 26, 2021 (155)
92 CNV burdens in cranial meningiomas NC_000007.13 - 33238834 Apr 26, 2021 (155)
93 Qatari NC_000007.13 - 33238834 Apr 26, 2020 (154)
94 SGDP_PRJ NC_000007.13 - 33238834 Apr 26, 2020 (154)
95 Siberian NC_000007.13 - 33238834 Apr 26, 2020 (154)
96 8.3KJPN NC_000007.13 - 33238834 Apr 26, 2021 (155)
97 14KJPN NC_000007.14 - 33199222 Oct 14, 2022 (156)
98 TopMed NC_000007.14 - 33199222 Apr 26, 2021 (155)
99 UK 10K study - Twins NC_000007.13 - 33238834 Oct 12, 2018 (152)
100 A Vietnamese Genetic Variation Database NC_000007.13 - 33238834 Jul 13, 2019 (153)
101 ALFA NC_000007.14 - 33199222 Apr 26, 2021 (155)
Help

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)
rs10486522 Feb 27, 2004 (120)
rs17474489 Oct 08, 2004 (123)
rs61441494 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3639347779, ss3639701693 NC_000007.11:33012073:A:G NC_000007.14:33199221:A:G (self)
464658, 550419, ss111785152, ss208151352, ss285602703, ss294043999, ss825333317, ss1397490436, ss1593700513, ss1712945230, ss3643626895, ss3847872527 NC_000007.12:33205358:A:G NC_000007.14:33199221:A:G (self)
36531216, 20368883, 14556217, 8307055, 9083136, 21204482, 7790818, 514291, 135635, 9415430, 18996592, 5078480, 40504739, 20368883, 4538500, ss233919482, ss654270033, ss984129221, ss1074498186, ss1324580463, ss1431080131, ss1582142116, ss1617920087, ss1660914120, ss1927373500, ss1970666485, ss2024366575, ss2152562126, ss2708221138, ss2851593299, ss3000892053, ss3347517684, ss3668817969, ss3734505953, ss3766390137, ss3830501823, ss3838739253, ss3866979612, ss3914027088, ss3984586214, ss3985288364, ss5182535432, ss5508906941, ss5642673662, ss5822632515, ss5971880056 NC_000007.13:33238833:A:G NC_000007.14:33199221:A:G (self)
47850099, 257562858, 3373513, 17574079, 56030751, 578596444, 6664011108, ss2292989243, ss3025977725, ss3719422656, ss3809556172, ss3844190822, ss3961196078, ss4741218885, ss5272398052, ss5469625131, ss5560324164, ss5722193647, ss5808479526, ss5855835253, ss5858358907 NC_000007.14:33199221:A:G NC_000007.14:33199221:A:G (self)
ss14142266, ss19728371 NT_007819.14:32532386:A:G NC_000007.14:33199221:A:G (self)
ss14873007, ss24446754, ss44826938, ss65969291, ss66548895, ss66879539, ss66968590, ss69011959, ss70363586, ss70475223, ss70997956, ss75620151, ss84931940, ss121293270, ss152706444, ss159119750, ss169348230, ss169963822 NT_007819.17:33228833:A:G NC_000007.14:33199221:A:G (self)
Help

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

10 citations for rs10272438
PMID Title Author Year Journal
15761122 Complement factor H polymorphism in age-related macular degeneration. Klein RJ et al. 2005 Science (New York, N.Y.)
18048322 A forest-based approach to identifying gene and gene gene interactions. Chen X et al. 2007 Proceedings of the National Academy of Sciences of the United States of America
18601744 Combining identity by descent and association in genetic case-control studies. Zhang Q et al. 2008 BMC genetics
19958499 A particle swarm based hybrid system for imbalanced medical data sampling. Yang P et al. 2009 BMC genomics
20161521 Detecting Genes and Gene-gene Interactions for Age-related Macular Degeneration with a Forest-based Approach. Wang M et al. 2009 Statistics in biopharmaceutical research
20181037 Incorporating prior knowledge to facilitate discoveries in a genome-wide association study on age-related macular degeneration. Lin WY et al. 2010 BMC research notes
20961462 A genetic ensemble approach for gene-gene interaction identification. Yang P et al. 2010 BMC bioinformatics
25276841 Complement system in pathogenesis of AMD: dual player in degeneration and protection of retinal tissue. Kawa MP et al. 2014 Journal of immunology research
27014873 FHSA-SED: Two-Locus Model Detection for Genome-Wide Association Study with Harmony Search Algorithm. Tuo S et al. 2016 PloS one
28912584 Niche harmony search algorithm for detecting complex disease associated high-order SNP combinations. Tuo S et al. 2017 Scientific reports
Help

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.

Software version is: 2.0.1.post761+d5e8e07