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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.

rs74505897

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr15:88858148 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.003030 (802/264690, TOPMED)
T=0.005250 (1308/249146, GnomAD_exome)
T=0.003031 (663/218756, ALFA) (+ 19 more)
T=0.002246 (315/140256, GnomAD)
T=0.005288 (638/120656, ExAC)
T=0.00748 (589/78702, PAGE_STUDY)
T=0.06416 (1813/28258, 14KJPN)
T=0.06366 (1067/16760, 8.3KJPN)
T=0.00033 (4/12130, GO-ESP)
T=0.0153 (98/6404, 1000G_30x)
T=0.0148 (74/5008, 1000G)
T=0.0036 (16/4480, Estonian)
T=0.0005 (2/3854, ALSPAC)
T=0.0000 (0/3708, TWINSUK)
T=0.0914 (267/2922, KOREAN)
T=0.0797 (146/1832, Korea1K)
T=0.077 (61/792, PRJEB37584)
T=0.021 (13/614, Vietnamese)
T=0.005 (3/600, NorthernSweden)
T=0.007 (2/300, FINRISK)
C=0.50 (10/20, SGDP_PRJ)
T=0.50 (10/20, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ACAN : Missense 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 235258 C=0.997139 T=0.002861
European Sub 196092 C=0.999490 T=0.000510
African Sub 10286 C=0.99942 T=0.00058
African Others Sub 370 C=1.000 T=0.000
African American Sub 9916 C=0.9994 T=0.0006
Asian Sub 6376 C=0.9311 T=0.0689
East Asian Sub 4522 C=0.9244 T=0.0756
Other Asian Sub 1854 C=0.9477 T=0.0523
Latin American 1 Sub 830 C=1.000 T=0.000
Latin American 2 Sub 1076 C=0.9981 T=0.0019
South Asian Sub 312 C=1.000 T=0.000
Other Sub 20286 C=0.99379 T=0.00621


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 C=0.996970 T=0.003030
gnomAD - Exomes Global Study-wide 249146 C=0.994750 T=0.005250
gnomAD - Exomes European Sub 134458 C=0.998959 T=0.001041
gnomAD - Exomes Asian Sub 48578 C=0.97750 T=0.02250
gnomAD - Exomes American Sub 34520 C=0.99864 T=0.00136
gnomAD - Exomes African Sub 15478 C=0.99987 T=0.00013
gnomAD - Exomes Ashkenazi Jewish Sub 10062 C=0.99901 T=0.00099
gnomAD - Exomes Other Sub 6050 C=0.9974 T=0.0026
Allele Frequency Aggregator Total Global 218756 C=0.996969 T=0.003031
Allele Frequency Aggregator European Sub 185880 C=0.999494 T=0.000506
Allele Frequency Aggregator Other Sub 18834 C=0.99336 T=0.00664
Allele Frequency Aggregator Asian Sub 6376 C=0.9311 T=0.0689
Allele Frequency Aggregator African Sub 5448 C=0.9994 T=0.0006
Allele Frequency Aggregator Latin American 2 Sub 1076 C=0.9981 T=0.0019
Allele Frequency Aggregator Latin American 1 Sub 830 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 312 C=1.000 T=0.000
gnomAD - Genomes Global Study-wide 140256 C=0.997754 T=0.002246
gnomAD - Genomes European Sub 75960 C=0.99883 T=0.00117
gnomAD - Genomes African Sub 42026 C=0.99979 T=0.00021
gnomAD - Genomes American Sub 13664 C=0.99912 T=0.00088
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.9997 T=0.0003
gnomAD - Genomes East Asian Sub 3132 C=0.9384 T=0.0616
gnomAD - Genomes Other Sub 2152 C=0.9949 T=0.0051
ExAC Global Study-wide 120656 C=0.994712 T=0.005288
ExAC Europe Sub 73296 C=0.99904 T=0.00096
ExAC Asian Sub 25126 C=0.97859 T=0.02141
ExAC American Sub 11554 C=0.99810 T=0.00190
ExAC African Sub 9782 C=0.9999 T=0.0001
ExAC Other Sub 898 C=0.992 T=0.008
The PAGE Study Global Study-wide 78702 C=0.99252 T=0.00748
The PAGE Study AfricanAmerican Sub 32516 C=0.99972 T=0.00028
The PAGE Study Mexican Sub 10810 C=0.99787 T=0.00213
The PAGE Study Asian Sub 8318 C=0.9412 T=0.0588
The PAGE Study PuertoRican Sub 7918 C=1.0000 T=0.0000
The PAGE Study NativeHawaiian Sub 4534 C=0.9907 T=0.0093
The PAGE Study Cuban Sub 4230 C=0.9998 T=0.0002
The PAGE Study Dominican Sub 3828 C=1.0000 T=0.0000
The PAGE Study CentralAmerican Sub 2450 C=0.9996 T=0.0004
The PAGE Study SouthAmerican Sub 1982 C=0.9934 T=0.0066
The PAGE Study NativeAmerican Sub 1260 C=0.9960 T=0.0040
The PAGE Study SouthAsian Sub 856 C=0.993 T=0.007
14KJPN JAPANESE Study-wide 28258 C=0.93584 T=0.06416
8.3KJPN JAPANESE Study-wide 16760 C=0.93634 T=0.06366
GO Exome Sequencing Project Global Study-wide 12130 C=0.99967 T=0.00033
GO Exome Sequencing Project European American Sub 8276 C=0.9995 T=0.0005
GO Exome Sequencing Project African American Sub 3854 C=1.0000 T=0.0000
1000Genomes_30x Global Study-wide 6404 C=0.9847 T=0.0153
1000Genomes_30x African Sub 1786 C=1.0000 T=0.0000
1000Genomes_30x Europe Sub 1266 C=0.9984 T=0.0016
1000Genomes_30x South Asian Sub 1202 C=0.9967 T=0.0033
1000Genomes_30x East Asian Sub 1170 C=0.9265 T=0.0735
1000Genomes_30x American Sub 980 C=0.994 T=0.006
1000Genomes Global Study-wide 5008 C=0.9852 T=0.0148
1000Genomes African Sub 1322 C=1.0000 T=0.0000
1000Genomes East Asian Sub 1008 C=0.9345 T=0.0655
1000Genomes Europe Sub 1006 C=0.9990 T=0.0010
1000Genomes South Asian Sub 978 C=0.997 T=0.003
1000Genomes American Sub 694 C=0.994 T=0.006
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9964 T=0.0036
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9995 T=0.0005
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=1.0000 T=0.0000
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.9086 T=0.0914
Korean Genome Project KOREAN Study-wide 1832 C=0.9203 T=0.0797
CNV burdens in cranial meningiomas Global Study-wide 792 C=0.923 T=0.077
CNV burdens in cranial meningiomas CRM Sub 792 C=0.923 T=0.077
A Vietnamese Genetic Variation Database Global Study-wide 614 C=0.979 T=0.021
Northern Sweden ACPOP Study-wide 600 C=0.995 T=0.005
FINRISK Finnish from FINRISK project Study-wide 300 C=0.993 T=0.007
SGDP_PRJ Global Study-wide 20 C=0.50 T=0.50
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 15 NC_000015.10:g.88858148C>T
GRCh37.p13 chr 15 NC_000015.9:g.89401379C>T
ACAN RefSeqGene NG_012794.1:g.59706C>T
Gene: ACAN, aggrecan (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ACAN transcript variant 3 NM_001369268.1:c.5563C>T L [CTC] > F [TTC] Coding Sequence Variant
aggrecan core protein isoform 3 precursor NP_001356197.1:p.Leu1855P…

NP_001356197.1:p.Leu1855Phe

L (Leu) > F (Phe) Missense Variant
ACAN transcript variant 2 NM_013227.4:c.5563C>T L [CTC] > F [TTC] Coding Sequence Variant
aggrecan core protein isoform 2 precursor NP_037359.3:p.Leu1855Phe L (Leu) > F (Phe) Missense Variant
ACAN transcript variant 1 NM_001135.4:c.5563C>T L [CTC] > F [TTC] Coding Sequence Variant
aggrecan core protein isoform 1 precursor NP_001126.3:p.Leu1855Phe L (Leu) > F (Phe) Missense Variant
ACAN transcript variant X1 XM_047432214.1:c.5563C>T L [CTC] > F [TTC] Coding Sequence Variant
aggrecan core protein isoform X1 XP_047288170.1:p.Leu1855P…

XP_047288170.1:p.Leu1855Phe

L (Leu) > F (Phe) Missense Variant
ACAN transcript variant X2 XM_047432215.1:c.5563C>T L [CTC] > F [TTC] Coding Sequence Variant
aggrecan core protein isoform X2 XP_047288171.1:p.Leu1855P…

XP_047288171.1:p.Leu1855Phe

L (Leu) > F (Phe) Missense Variant
ACAN transcript variant X3 XM_011521313.2:c.5563C>T L [CTC] > F [TTC] Coding Sequence Variant
aggrecan core protein isoform X3 XP_011519615.1:p.Leu1855P…

XP_011519615.1:p.Leu1855Phe

L (Leu) > F (Phe) Missense Variant
ACAN transcript variant X3 XM_047432216.1:c.5563C>T L [CTC] > F [TTC] Coding Sequence Variant
aggrecan core protein isoform X3 XP_047288172.1:p.Leu1855P…

XP_047288172.1:p.Leu1855Phe

L (Leu) > F (Phe) Missense Variant
ACAN transcript variant X4 XM_047432217.1:c.5563C>T L [CTC] > F [TTC] Coding Sequence Variant
aggrecan core protein isoform X3 XP_047288173.1:p.Leu1855P…

XP_047288173.1:p.Leu1855Phe

L (Leu) > F (Phe) Missense Variant
ACAN transcript variant X6 XM_011521314.2:c.5563C>T L [CTC] > F [TTC] Coding Sequence Variant
aggrecan core protein isoform X5 XP_011519616.1:p.Leu1855P…

XP_011519616.1:p.Leu1855Phe

L (Leu) > F (Phe) Missense 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.

Allele: T (allele ID: 1255545 )
ClinVar Accession Disease Names Clinical Significance
RCV001676332.2 not provided Benign
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 C= T
GRCh38.p14 chr 15 NC_000015.10:g.88858148= NC_000015.10:g.88858148C>T
GRCh37.p13 chr 15 NC_000015.9:g.89401379= NC_000015.9:g.89401379C>T
ACAN RefSeqGene NG_012794.1:g.59706= NG_012794.1:g.59706C>T
ACAN transcript variant 2 NM_013227.4:c.5563= NM_013227.4:c.5563C>T
ACAN transcript variant 2 NM_013227.3:c.5563= NM_013227.3:c.5563C>T
ACAN transcript variant 1 NM_001135.4:c.5563= NM_001135.4:c.5563C>T
ACAN transcript variant 1 NM_001135.3:c.5563= NM_001135.3:c.5563C>T
ACAN transcript variant 3 NM_001369268.1:c.5563= NM_001369268.1:c.5563C>T
ACAN transcript variant X3 XM_011521313.2:c.5563= XM_011521313.2:c.5563C>T
ACAN transcript variant X6 XM_011521314.2:c.5563= XM_011521314.2:c.5563C>T
ACAN transcript variant 5 NM_001411097.1:c.5563= NM_001411097.1:c.5563C>T
ACAN transcript variant 4 NM_001411096.1:c.5563= NM_001411096.1:c.5563C>T
ACAN transcript variant X3 XM_047432216.1:c.5563= XM_047432216.1:c.5563C>T
ACAN transcript variant X1 XM_047432214.1:c.5563= XM_047432214.1:c.5563C>T
ACAN transcript variant X2 XM_047432215.1:c.5563= XM_047432215.1:c.5563C>T
ACAN transcript variant X4 XM_047432217.1:c.5563= XM_047432217.1:c.5563C>T
aggrecan core protein isoform 2 precursor NP_037359.3:p.Leu1855= NP_037359.3:p.Leu1855Phe
aggrecan core protein isoform 1 precursor NP_001126.3:p.Leu1855= NP_001126.3:p.Leu1855Phe
aggrecan core protein isoform 3 precursor NP_001356197.1:p.Leu1855= NP_001356197.1:p.Leu1855Phe
aggrecan core protein isoform X3 XP_011519615.1:p.Leu1855= XP_011519615.1:p.Leu1855Phe
aggrecan core protein isoform X5 XP_011519616.1:p.Leu1855= XP_011519616.1:p.Leu1855Phe
aggrecan core protein isoform X3 XP_047288172.1:p.Leu1855= XP_047288172.1:p.Leu1855Phe
aggrecan core protein isoform X1 XP_047288170.1:p.Leu1855= XP_047288170.1:p.Leu1855Phe
aggrecan core protein isoform X2 XP_047288171.1:p.Leu1855= XP_047288171.1:p.Leu1855Phe
aggrecan core protein isoform X3 XP_047288173.1:p.Leu1855= XP_047288173.1:p.Leu1855Phe
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, 21 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 ILLUMINA ss161053176 Dec 01, 2009 (131)
2 1000GENOMES ss243241491 Jul 15, 2010 (132)
3 GMI ss282355142 May 04, 2012 (137)
4 ILLUMINA ss479265743 Sep 08, 2015 (146)
5 ILLUMINA ss482012439 May 04, 2012 (137)
6 ILLUMINA ss483451645 May 04, 2012 (137)
7 EXOME_CHIP ss491499075 May 04, 2012 (137)
8 ILLUMINA ss534468599 Sep 08, 2015 (146)
9 SSMP ss660380223 Apr 25, 2013 (138)
10 NHLBI-ESP ss713253343 Apr 25, 2013 (138)
11 ILLUMINA ss779326386 Sep 08, 2015 (146)
12 ILLUMINA ss780712210 Sep 08, 2015 (146)
13 ILLUMINA ss781625445 Sep 08, 2015 (146)
14 ILLUMINA ss783387101 Sep 08, 2015 (146)
15 ILLUMINA ss834794060 Sep 08, 2015 (146)
16 1000GENOMES ss1354528486 Aug 21, 2014 (142)
17 EVA_FINRISK ss1584096049 Apr 01, 2015 (144)
18 EVA_UK10K_ALSPAC ss1633567339 Apr 01, 2015 (144)
19 EVA_UK10K_TWINSUK ss1676561372 Apr 01, 2015 (144)
20 EVA_EXAC ss1691982406 Apr 01, 2015 (144)
21 ILLUMINA ss1752176110 Sep 08, 2015 (146)
22 ILLUMINA ss1917900343 Feb 12, 2016 (147)
23 ILLUMINA ss1946401516 Feb 12, 2016 (147)
24 ILLUMINA ss1959635189 Feb 12, 2016 (147)
25 JJLAB ss2028514161 Sep 14, 2016 (149)
26 HUMAN_LONGEVITY ss2208933695 Dec 20, 2016 (150)
27 SYSTEMSBIOZJU ss2628751740 Nov 08, 2017 (151)
28 ILLUMINA ss2633263632 Nov 08, 2017 (151)
29 GRF ss2701408771 Nov 08, 2017 (151)
30 GNOMAD ss2741488633 Nov 08, 2017 (151)
31 GNOMAD ss2749378739 Nov 08, 2017 (151)
32 GNOMAD ss2937963564 Nov 08, 2017 (151)
33 AFFY ss2985050500 Nov 08, 2017 (151)
34 SWEGEN ss3013717887 Nov 08, 2017 (151)
35 ILLUMINA ss3021658739 Nov 08, 2017 (151)
36 ILLUMINA ss3627424537 Oct 12, 2018 (152)
37 ILLUMINA ss3627424538 Oct 12, 2018 (152)
38 ILLUMINA ss3631254082 Oct 12, 2018 (152)
39 ILLUMINA ss3634619764 Oct 12, 2018 (152)
40 ILLUMINA ss3636310648 Oct 12, 2018 (152)
41 ILLUMINA ss3640327084 Oct 12, 2018 (152)
42 ILLUMINA ss3644654624 Oct 12, 2018 (152)
43 ILLUMINA ss3652061475 Oct 12, 2018 (152)
44 ILLUMINA ss3653822469 Oct 12, 2018 (152)
45 EGCUT_WGS ss3680849204 Jul 13, 2019 (153)
46 EVA_DECODE ss3698415970 Jul 13, 2019 (153)
47 ILLUMINA ss3725522664 Jul 13, 2019 (153)
48 ACPOP ss3741151296 Jul 13, 2019 (153)
49 ILLUMINA ss3744424411 Jul 13, 2019 (153)
50 ILLUMINA ss3744920293 Jul 13, 2019 (153)
51 EVA ss3753418791 Jul 13, 2019 (153)
52 PAGE_CC ss3771848510 Jul 13, 2019 (153)
53 ILLUMINA ss3772418793 Jul 13, 2019 (153)
54 KHV_HUMAN_GENOMES ss3818719546 Jul 13, 2019 (153)
55 EVA ss3824950989 Apr 27, 2020 (154)
56 EVA ss3825865680 Apr 27, 2020 (154)
57 SGDP_PRJ ss3883478435 Apr 27, 2020 (154)
58 KRGDB ss3932726767 Apr 27, 2020 (154)
59 KOGIC ss3976693278 Apr 27, 2020 (154)
60 EVA ss3984705714 Apr 26, 2021 (155)
61 EVA ss3986068419 Apr 26, 2021 (155)
62 EVA ss3986661283 Apr 26, 2021 (155)
63 TOPMED ss5000747487 Apr 26, 2021 (155)
64 TOMMO_GENOMICS ss5217447799 Apr 26, 2021 (155)
65 EVA ss5236926884 Apr 26, 2021 (155)
66 1000G_HIGH_COVERAGE ss5299380362 Oct 16, 2022 (156)
67 TRAN_CS_UWATERLOO ss5314442084 Oct 16, 2022 (156)
68 EVA ss5315804606 Oct 16, 2022 (156)
69 EVA ss5420950515 Oct 16, 2022 (156)
70 HUGCELL_USP ss5492999220 Oct 16, 2022 (156)
71 1000G_HIGH_COVERAGE ss5601254193 Oct 16, 2022 (156)
72 SANFORD_IMAGENETICS ss5658035910 Oct 16, 2022 (156)
73 TOMMO_GENOMICS ss5771632133 Oct 16, 2022 (156)
74 YY_MCH ss5815569826 Oct 16, 2022 (156)
75 EVA ss5847753491 Oct 16, 2022 (156)
76 EVA ss5876947953 Oct 16, 2022 (156)
77 EVA ss5949458350 Oct 16, 2022 (156)
78 1000Genomes NC_000015.9 - 89401379 Oct 12, 2018 (152)
79 1000Genomes_30x NC_000015.10 - 88858148 Oct 16, 2022 (156)
80 The Avon Longitudinal Study of Parents and Children NC_000015.9 - 89401379 Oct 12, 2018 (152)
81 Genetic variation in the Estonian population NC_000015.9 - 89401379 Oct 12, 2018 (152)
82 ExAC NC_000015.9 - 89401379 Oct 12, 2018 (152)
83 FINRISK NC_000015.9 - 89401379 Apr 27, 2020 (154)
84 gnomAD - Genomes NC_000015.10 - 88858148 Apr 26, 2021 (155)
85 gnomAD - Exomes NC_000015.9 - 89401379 Jul 13, 2019 (153)
86 GO Exome Sequencing Project NC_000015.9 - 89401379 Oct 12, 2018 (152)
87 KOREAN population from KRGDB NC_000015.9 - 89401379 Apr 27, 2020 (154)
88 Korean Genome Project NC_000015.10 - 88858148 Apr 27, 2020 (154)
89 Northern Sweden NC_000015.9 - 89401379 Jul 13, 2019 (153)
90 The PAGE Study NC_000015.10 - 88858148 Jul 13, 2019 (153)
91 CNV burdens in cranial meningiomas NC_000015.9 - 89401379 Apr 26, 2021 (155)
92 SGDP_PRJ NC_000015.9 - 89401379 Apr 27, 2020 (154)
93 8.3KJPN NC_000015.9 - 89401379 Apr 26, 2021 (155)
94 14KJPN NC_000015.10 - 88858148 Oct 16, 2022 (156)
95 TopMed NC_000015.10 - 88858148 Apr 26, 2021 (155)
96 UK 10K study - Twins NC_000015.9 - 89401379 Oct 12, 2018 (152)
97 A Vietnamese Genetic Variation Database NC_000015.9 - 89401379 Jul 13, 2019 (153)
98 ALFA NC_000015.10 - 88858148 Apr 26, 2021 (155)
99 ClinVar RCV001676332.2 Oct 16, 2022 (156)
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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss282355142, ss483451645 NC_000015.8:87202382:C:T NC_000015.10:88858147:C:T (self)
67637963, 37562584, 26587452, 2367474, 92510, 10756659, 1408232, 39904161, 14436161, 255242, 35495415, 75417106, 37562584, 8350073, ss243241491, ss479265743, ss482012439, ss491499075, ss534468599, ss660380223, ss713253343, ss779326386, ss780712210, ss781625445, ss783387101, ss834794060, ss1354528486, ss1584096049, ss1633567339, ss1676561372, ss1691982406, ss1752176110, ss1917900343, ss1946401516, ss1959635189, ss2028514161, ss2628751740, ss2633263632, ss2701408771, ss2741488633, ss2749378739, ss2937963564, ss2985050500, ss3013717887, ss3021658739, ss3627424537, ss3627424538, ss3631254082, ss3634619764, ss3636310648, ss3640327084, ss3644654624, ss3652061475, ss3653822469, ss3680849204, ss3741151296, ss3744424411, ss3744920293, ss3753418791, ss3772418793, ss3824950989, ss3825865680, ss3883478435, ss3932726767, ss3984705714, ss3986068419, ss3986661283, ss5217447799, ss5315804606, ss5420950515, ss5658035910, ss5847753491, ss5949458350 NC_000015.9:89401378:C:T NC_000015.10:88858147:C:T (self)
RCV001676332.2, 88780128, 476875324, 33071279, 1069979, 105469237, 216293147, 7877244385, ss2208933695, ss3698415970, ss3725522664, ss3771848510, ss3818719546, ss3976693278, ss5000747487, ss5236926884, ss5299380362, ss5314442084, ss5492999220, ss5601254193, ss5771632133, ss5815569826, ss5876947953 NC_000015.10:88858147:C:T NC_000015.10:88858147:C:T (self)
ss161053176 NT_010274.17:4366905:C:T NC_000015.10:88858147:C:T (self)
Help

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

No publications for rs74505897

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