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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.

rs28927675

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:73938053 (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
T>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.395251 (104619/264690, TOPMED)
C=0.461889 (116143/251452, GnomAD_exome)
C=0.470724 (103997/220930, ALFA) (+ 26 more)
C=0.406605 (56954/140072, GnomAD)
C=0.456725 (55440/121386, ExAC)
C=0.35649 (28052/78690, PAGE_STUDY)
C=0.49374 (13952/28258, 14KJPN)
C=0.49720 (8333/16760, 8.3KJPN)
C=0.38974 (5069/13006, GO-ESP)
C=0.3976 (2546/6404, 1000G_30x)
C=0.4073 (2040/5008, 1000G)
C=0.4962 (2223/4480, Estonian)
C=0.4798 (1849/3854, ALSPAC)
C=0.4722 (1751/3708, TWINSUK)
T=0.4683 (1372/2930, KOREAN)
T=0.4607 (844/1832, Korea1K)
C=0.4982 (562/1128, Daghestan)
C=0.454 (453/998, GoNL)
T=0.481 (372/774, PRJEB37584)
C=0.365 (224/614, Vietnamese)
C=0.427 (256/600, NorthernSweden)
T=0.466 (249/534, MGP)
T=0.333 (128/384, SGDP_PRJ)
T=0.444 (135/304, FINRISK)
C=0.481 (104/216, Qatari)
T=0.46 (24/52, Ancient Sardinia)
T=0.50 (20/40, GENOME_DK)
C=0.50 (20/40, GENOME_DK)
T=0.32 (12/38, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FAM161B : 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 237426 T=0.533901 C=0.466099
European Sub 196826 T=0.521262 C=0.478738
African Sub 12664 T=0.75308 C=0.24692
African Others Sub 454 T=0.846 C=0.154
African American Sub 12210 T=0.74963 C=0.25037
Asian Sub 6360 T=0.4770 C=0.5230
East Asian Sub 4510 T=0.4776 C=0.5224
Other Asian Sub 1850 T=0.4757 C=0.5243
Latin American 1 Sub 814 T=0.615 C=0.385
Latin American 2 Sub 1058 T=0.5766 C=0.4234
South Asian Sub 298 T=0.493 C=0.507
Other Sub 19406 T=0.53257 C=0.46743


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 T=0.604749 C=0.395251
gnomAD - Exomes Global Study-wide 251452 T=0.538111 C=0.461889
gnomAD - Exomes European Sub 135396 T=0.511123 C=0.488877
gnomAD - Exomes Asian Sub 49004 T=0.50029 C=0.49971
gnomAD - Exomes American Sub 34578 T=0.60015 C=0.39985
gnomAD - Exomes African Sub 16256 T=0.76366 C=0.23634
gnomAD - Exomes Ashkenazi Jewish Sub 10080 T=0.51518 C=0.48482
gnomAD - Exomes Other Sub 6138 T=0.5262 C=0.4738
Allele Frequency Aggregator Total Global 220930 T=0.529276 C=0.470724
Allele Frequency Aggregator European Sub 186616 T=0.521247 C=0.478753
Allele Frequency Aggregator Other Sub 17956 T=0.53018 C=0.46982
Allele Frequency Aggregator African Sub 7828 T=0.7471 C=0.2529
Allele Frequency Aggregator Asian Sub 6360 T=0.4770 C=0.5230
Allele Frequency Aggregator Latin American 2 Sub 1058 T=0.5766 C=0.4234
Allele Frequency Aggregator Latin American 1 Sub 814 T=0.615 C=0.385
Allele Frequency Aggregator South Asian Sub 298 T=0.493 C=0.507
gnomAD - Genomes Global Study-wide 140072 T=0.593395 C=0.406605
gnomAD - Genomes European Sub 75862 T=0.51276 C=0.48724
gnomAD - Genomes African Sub 41990 T=0.76266 C=0.23734
gnomAD - Genomes American Sub 13634 T=0.56110 C=0.43890
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.5084 C=0.4916
gnomAD - Genomes East Asian Sub 3120 T=0.5099 C=0.4901
gnomAD - Genomes Other Sub 2144 T=0.5900 C=0.4100
ExAC Global Study-wide 121386 T=0.543275 C=0.456725
ExAC Europe Sub 73348 T=0.51552 C=0.48448
ExAC Asian Sub 25150 T=0.49976 C=0.50024
ExAC American Sub 11574 T=0.61163 C=0.38837
ExAC African Sub 10406 T=0.76754 C=0.23246
ExAC Other Sub 908 T=0.550 C=0.450
The PAGE Study Global Study-wide 78690 T=0.64351 C=0.35649
The PAGE Study AfricanAmerican Sub 32514 T=0.75161 C=0.24839
The PAGE Study Mexican Sub 10808 T=0.59077 C=0.40923
The PAGE Study Asian Sub 8316 T=0.5032 C=0.4968
The PAGE Study PuertoRican Sub 7916 T=0.5786 C=0.4214
The PAGE Study NativeHawaiian Sub 4534 T=0.5210 C=0.4790
The PAGE Study Cuban Sub 4228 T=0.5589 C=0.4411
The PAGE Study Dominican Sub 3828 T=0.6345 C=0.3655
The PAGE Study CentralAmerican Sub 2448 T=0.5997 C=0.4003
The PAGE Study SouthAmerican Sub 1982 T=0.6534 C=0.3466
The PAGE Study NativeAmerican Sub 1260 T=0.5754 C=0.4246
The PAGE Study SouthAsian Sub 856 T=0.477 C=0.523
14KJPN JAPANESE Study-wide 28258 T=0.50626 C=0.49374
8.3KJPN JAPANESE Study-wide 16760 T=0.50280 C=0.49720
GO Exome Sequencing Project Global Study-wide 13006 T=0.61026 C=0.38974
GO Exome Sequencing Project European American Sub 8600 T=0.5286 C=0.4714
GO Exome Sequencing Project African American Sub 4406 T=0.7696 C=0.2304
1000Genomes_30x Global Study-wide 6404 T=0.6024 C=0.3976
1000Genomes_30x African Sub 1786 T=0.7822 C=0.2178
1000Genomes_30x Europe Sub 1266 T=0.5269 C=0.4731
1000Genomes_30x South Asian Sub 1202 T=0.4809 C=0.5191
1000Genomes_30x East Asian Sub 1170 T=0.5470 C=0.4530
1000Genomes_30x American Sub 980 T=0.588 C=0.412
1000Genomes Global Study-wide 5008 T=0.5927 C=0.4073
1000Genomes African Sub 1322 T=0.7821 C=0.2179
1000Genomes East Asian Sub 1008 T=0.5417 C=0.4583
1000Genomes Europe Sub 1006 T=0.5169 C=0.4831
1000Genomes South Asian Sub 978 T=0.480 C=0.520
1000Genomes American Sub 694 T=0.575 C=0.425
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.5038 C=0.4962
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.5202 C=0.4798
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.5278 C=0.4722
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.4683 A=0.0000, C=0.5317
Korean Genome Project KOREAN Study-wide 1832 T=0.4607 C=0.5393
Genome-wide autozygosity in Daghestan Global Study-wide 1128 T=0.5018 C=0.4982
Genome-wide autozygosity in Daghestan Daghestan Sub 624 T=0.518 C=0.482
Genome-wide autozygosity in Daghestan Near_East Sub 144 T=0.549 C=0.451
Genome-wide autozygosity in Daghestan Central Asia Sub 120 T=0.425 C=0.575
Genome-wide autozygosity in Daghestan Europe Sub 106 T=0.509 C=0.491
Genome-wide autozygosity in Daghestan South Asian Sub 98 T=0.42 C=0.58
Genome-wide autozygosity in Daghestan Caucasus Sub 36 T=0.50 C=0.50
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.546 C=0.454
CNV burdens in cranial meningiomas Global Study-wide 774 T=0.481 C=0.519
CNV burdens in cranial meningiomas CRM Sub 774 T=0.481 C=0.519
A Vietnamese Genetic Variation Database Global Study-wide 614 T=0.635 C=0.365
Northern Sweden ACPOP Study-wide 600 T=0.573 C=0.427
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.466 C=0.534
SGDP_PRJ Global Study-wide 384 T=0.333 C=0.667
FINRISK Finnish from FINRISK project Study-wide 304 T=0.444 C=0.556
Qatari Global Study-wide 216 T=0.519 C=0.481
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 52 T=0.46 C=0.54
The Danish reference pan genome Danish Study-wide 40 T=0.50 C=0.50
Siberian Global Study-wide 38 T=0.32 C=0.68
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 14 NC_000014.9:g.73938053T>A
GRCh38.p14 chr 14 NC_000014.9:g.73938053T>C
GRCh37.p13 chr 14 NC_000014.8:g.74404756T>A
GRCh37.p13 chr 14 NC_000014.8:g.74404756T>C
Gene: FAM161B, FAM161 centrosomal protein B (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FAM161B transcript NM_152445.3:c.1460A>T K [AAA] > I [ATA] Coding Sequence Variant
protein FAM161B NP_689658.3:p.Lys487Ile K (Lys) > I (Ile) Missense Variant
FAM161B transcript NM_152445.3:c.1460A>G K [AAA] > R [AGA] Coding Sequence Variant
protein FAM161B NP_689658.3:p.Lys487Arg K (Lys) > R (Arg) Missense Variant
FAM161B transcript variant X1 XM_011536475.3:c.1460A>T K [AAA] > I [ATA] Coding Sequence Variant
protein FAM161B isoform X1 XP_011534777.2:p.Lys487Ile K (Lys) > I (Ile) Missense Variant
FAM161B transcript variant X1 XM_011536475.3:c.1460A>G K [AAA] > R [AGA] Coding Sequence Variant
protein FAM161B isoform X1 XP_011534777.2:p.Lys487Arg K (Lys) > R (Arg) Missense Variant
FAM161B transcript variant X2 XR_007063990.1:n.1528A>T N/A Non Coding Transcript Variant
FAM161B transcript variant X2 XR_007063990.1:n.1528A>G N/A Non Coding Transcript 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 T= A C
GRCh38.p14 chr 14 NC_000014.9:g.73938053= NC_000014.9:g.73938053T>A NC_000014.9:g.73938053T>C
GRCh37.p13 chr 14 NC_000014.8:g.74404756= NC_000014.8:g.74404756T>A NC_000014.8:g.74404756T>C
FAM161B transcript NM_152445.3:c.1460= NM_152445.3:c.1460A>T NM_152445.3:c.1460A>G
FAM161B transcript NM_152445.2:c.1649= NM_152445.2:c.1649A>T NM_152445.2:c.1649A>G
FAM161B transcript variant X1 XM_011536475.3:c.1460= XM_011536475.3:c.1460A>T XM_011536475.3:c.1460A>G
FAM161B transcript variant X1 XM_011536475.2:c.1649= XM_011536475.2:c.1649A>T XM_011536475.2:c.1649A>G
FAM161B transcript variant X1 XM_011536475.1:c.1649= XM_011536475.1:c.1649A>T XM_011536475.1:c.1649A>G
FAM161B transcript variant X2 XR_007063990.1:n.1528= XR_007063990.1:n.1528A>T XR_007063990.1:n.1528A>G
protein FAM161B NP_689658.3:p.Lys487= NP_689658.3:p.Lys487Ile NP_689658.3:p.Lys487Arg
protein FAM161B isoform X1 XP_011534777.2:p.Lys487= XP_011534777.2:p.Lys487Ile XP_011534777.2:p.Lys487Arg
protein FAM161B NP_689658.2:p.Lys550= NP_689658.2:p.Lys550Ile NP_689658.2:p.Lys550Arg
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#.

123 SubSNP, 28 Frequency submissions
No Submitter Submission ID Date (Build)
1 PERLEGEN ss38338824 May 24, 2005 (125)
2 SI_EXO ss69376257 May 16, 2007 (127)
3 BCMHGSC_JDW ss89994090 Mar 24, 2008 (129)
4 BGI ss106398059 Feb 04, 2009 (130)
5 ENSEMBL ss134048697 Dec 01, 2009 (131)
6 SEATTLESEQ ss159729598 Dec 01, 2009 (131)
7 BUSHMAN ss200259605 Jul 04, 2010 (132)
8 1000GENOMES ss211538713 Jul 14, 2010 (132)
9 1000GENOMES ss226649010 Jul 14, 2010 (132)
10 1000GENOMES ss236601936 Jul 15, 2010 (132)
11 1000GENOMES ss243023534 Jul 15, 2010 (132)
12 GMI ss282062478 May 04, 2012 (137)
13 GMI ss286868735 Apr 25, 2013 (138)
14 PJP ss291628754 May 09, 2011 (134)
15 NHLBI-ESP ss342391550 May 09, 2011 (134)
16 ILLUMINA ss483140408 May 04, 2012 (137)
17 ILLUMINA ss483330742 May 04, 2012 (137)
18 1000GENOMES ss491072220 May 04, 2012 (137)
19 EXOME_CHIP ss491487185 May 04, 2012 (137)
20 CLINSEQ_SNP ss491690227 May 04, 2012 (137)
21 ILLUMINA ss535362728 Sep 08, 2015 (146)
22 TISHKOFF ss564185546 Apr 25, 2013 (138)
23 SSMP ss659876297 Apr 25, 2013 (138)
24 ILLUMINA ss779498761 Aug 21, 2014 (142)
25 ILLUMINA ss780702961 Aug 21, 2014 (142)
26 ILLUMINA ss782013556 Aug 21, 2014 (142)
27 ILLUMINA ss783377313 Aug 21, 2014 (142)
28 ILLUMINA ss834968971 Aug 21, 2014 (142)
29 JMKIDD_LAB ss974489169 Aug 21, 2014 (142)
30 EVA-GONL ss991311406 Aug 21, 2014 (142)
31 JMKIDD_LAB ss1067547035 Aug 21, 2014 (142)
32 JMKIDD_LAB ss1079776299 Aug 21, 2014 (142)
33 1000GENOMES ss1351622337 Aug 21, 2014 (142)
34 HAMMER_LAB ss1397684843 Sep 08, 2015 (146)
35 DDI ss1427469135 Apr 01, 2015 (144)
36 EVA_GENOME_DK ss1577350213 Apr 01, 2015 (144)
37 EVA_FINRISK ss1584090729 Apr 01, 2015 (144)
38 EVA_UK10K_ALSPAC ss1632069797 Apr 01, 2015 (144)
39 EVA_UK10K_TWINSUK ss1675063830 Apr 01, 2015 (144)
40 EVA_EXAC ss1691552882 Apr 01, 2015 (144)
41 EVA_DECODE ss1695315369 Apr 01, 2015 (144)
42 EVA_MGP ss1711377578 Apr 01, 2015 (144)
43 ILLUMINA ss1752141730 Sep 08, 2015 (146)
44 ILLUMINA ss1917890487 Feb 12, 2016 (147)
45 WEILL_CORNELL_DGM ss1934681647 Feb 12, 2016 (147)
46 ILLUMINA ss1946380954 Feb 12, 2016 (147)
47 ILLUMINA ss1959566244 Feb 12, 2016 (147)
48 GENOMED ss1967997742 Jul 19, 2016 (147)
49 JJLAB ss2028122651 Sep 14, 2016 (149)
50 USC_VALOUEV ss2156498859 Dec 20, 2016 (150)
51 HUMAN_LONGEVITY ss2203262438 Dec 20, 2016 (150)
52 SYSTEMSBIOZJU ss2628549963 Nov 08, 2017 (151)
53 ILLUMINA ss2633170913 Nov 08, 2017 (151)
54 GRF ss2700931093 Nov 08, 2017 (151)
55 GNOMAD ss2740826034 Nov 08, 2017 (151)
56 GNOMAD ss2749170331 Nov 08, 2017 (151)
57 GNOMAD ss2929461574 Nov 08, 2017 (151)
58 AFFY ss2985026029 Nov 08, 2017 (151)
59 AFFY ss2985658843 Nov 08, 2017 (151)
60 SWEGEN ss3012455172 Nov 08, 2017 (151)
61 ILLUMINA ss3021583212 Nov 08, 2017 (151)
62 EVA_SAMSUNG_MC ss3023068649 Nov 08, 2017 (151)
63 BIOINF_KMB_FNS_UNIBA ss3027886070 Nov 08, 2017 (151)
64 CSHL ss3350878776 Nov 08, 2017 (151)
65 ILLUMINA ss3627255234 Oct 12, 2018 (152)
66 ILLUMINA ss3627255235 Oct 12, 2018 (152)
67 ILLUMINA ss3631167882 Oct 12, 2018 (152)
68 ILLUMINA ss3634584157 Oct 12, 2018 (152)
69 ILLUMINA ss3640291484 Oct 12, 2018 (152)
70 ILLUMINA ss3644634079 Oct 12, 2018 (152)
71 OMUKHERJEE_ADBS ss3646462471 Oct 12, 2018 (152)
72 ILLUMINA ss3651978064 Oct 12, 2018 (152)
73 ILLUMINA ss3653797208 Oct 12, 2018 (152)
74 EGCUT_WGS ss3679711013 Jul 13, 2019 (153)
75 EVA_DECODE ss3696986470 Jul 13, 2019 (153)
76 ILLUMINA ss3725460843 Jul 13, 2019 (153)
77 ACPOP ss3740519676 Jul 13, 2019 (153)
78 ILLUMINA ss3744413789 Jul 13, 2019 (153)
79 ILLUMINA ss3744884774 Jul 13, 2019 (153)
80 EVA ss3752513366 Jul 13, 2019 (153)
81 PAGE_CC ss3771799119 Jul 13, 2019 (153)
82 ILLUMINA ss3772383551 Jul 13, 2019 (153)
83 PACBIO ss3787708692 Jul 13, 2019 (153)
84 PACBIO ss3792739907 Jul 13, 2019 (153)
85 PACBIO ss3797624276 Jul 13, 2019 (153)
86 KHV_HUMAN_GENOMES ss3817840842 Jul 13, 2019 (153)
87 EVA ss3824864987 Apr 27, 2020 (154)
88 EVA ss3825529469 Apr 27, 2020 (154)
89 EVA ss3825544522 Apr 27, 2020 (154)
90 EVA ss3825848915 Apr 27, 2020 (154)
91 EVA ss3833999614 Apr 27, 2020 (154)
92 SGDP_PRJ ss3881830732 Apr 27, 2020 (154)
93 KRGDB ss3930883381 Apr 27, 2020 (154)
94 KOGIC ss3975240319 Apr 27, 2020 (154)
95 FSA-LAB ss3984059610 Apr 27, 2021 (155)
96 EVA ss3984693943 Apr 27, 2021 (155)
97 EVA ss3985689126 Apr 27, 2021 (155)
98 EVA ss3986624698 Apr 27, 2021 (155)
99 TOPMED ss4976012324 Apr 27, 2021 (155)
100 TOMMO_GENOMICS ss5213934178 Apr 27, 2021 (155)
101 EVA ss5236918473 Apr 27, 2021 (155)
102 EVA ss5237227018 Apr 27, 2021 (155)
103 1000G_HIGH_COVERAGE ss5296766598 Oct 16, 2022 (156)
104 EVA ss5315748721 Oct 16, 2022 (156)
105 EVA ss5416244578 Oct 16, 2022 (156)
106 HUGCELL_USP ss5490757585 Oct 16, 2022 (156)
107 EVA ss5511297966 Oct 16, 2022 (156)
108 1000G_HIGH_COVERAGE ss5597318135 Oct 16, 2022 (156)
109 EVA ss5623962519 Oct 16, 2022 (156)
110 EVA ss5624046755 Oct 16, 2022 (156)
111 SANFORD_IMAGENETICS ss5656528059 Oct 16, 2022 (156)
112 TOMMO_GENOMICS ss5766941942 Oct 16, 2022 (156)
113 EVA ss5799452002 Oct 16, 2022 (156)
114 EVA ss5800067022 Oct 16, 2022 (156)
115 EVA ss5800188808 Oct 16, 2022 (156)
116 YY_MCH ss5814886068 Oct 16, 2022 (156)
117 EVA ss5841324661 Oct 16, 2022 (156)
118 EVA ss5847726071 Oct 16, 2022 (156)
119 EVA ss5848387878 Oct 16, 2022 (156)
120 EVA ss5851100153 Oct 16, 2022 (156)
121 EVA ss5936557879 Oct 16, 2022 (156)
122 EVA ss5947975955 Oct 16, 2022 (156)
123 EVA ss5981285418 Oct 16, 2022 (156)
124 1000Genomes NC_000014.8 - 74404756 Oct 12, 2018 (152)
125 1000Genomes_30x NC_000014.9 - 73938053 Oct 16, 2022 (156)
126 The Avon Longitudinal Study of Parents and Children NC_000014.8 - 74404756 Oct 12, 2018 (152)
127 Genome-wide autozygosity in Daghestan NC_000014.7 - 73474509 Apr 27, 2020 (154)
128 Genetic variation in the Estonian population NC_000014.8 - 74404756 Oct 12, 2018 (152)
129 ExAC NC_000014.8 - 74404756 Oct 12, 2018 (152)
130 FINRISK NC_000014.8 - 74404756 Apr 27, 2020 (154)
131 The Danish reference pan genome NC_000014.8 - 74404756 Apr 27, 2020 (154)
132 gnomAD - Genomes NC_000014.9 - 73938053 Apr 27, 2021 (155)
133 gnomAD - Exomes NC_000014.8 - 74404756 Jul 13, 2019 (153)
134 GO Exome Sequencing Project NC_000014.8 - 74404756 Oct 12, 2018 (152)
135 Genome of the Netherlands Release 5 NC_000014.8 - 74404756 Apr 27, 2020 (154)
136 KOREAN population from KRGDB NC_000014.8 - 74404756 Apr 27, 2020 (154)
137 Korean Genome Project NC_000014.9 - 73938053 Apr 27, 2020 (154)
138 Medical Genome Project healthy controls from Spanish population NC_000014.8 - 74404756 Apr 27, 2020 (154)
139 Northern Sweden NC_000014.8 - 74404756 Jul 13, 2019 (153)
140 The PAGE Study NC_000014.9 - 73938053 Jul 13, 2019 (153)
141 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000014.8 - 74404756 Apr 27, 2021 (155)
142 CNV burdens in cranial meningiomas NC_000014.8 - 74404756 Apr 27, 2021 (155)
143 Qatari NC_000014.8 - 74404756 Apr 27, 2020 (154)
144 SGDP_PRJ NC_000014.8 - 74404756 Apr 27, 2020 (154)
145 Siberian NC_000014.8 - 74404756 Apr 27, 2020 (154)
146 8.3KJPN NC_000014.8 - 74404756 Apr 27, 2021 (155)
147 14KJPN NC_000014.9 - 73938053 Oct 16, 2022 (156)
148 TopMed NC_000014.9 - 73938053 Apr 27, 2021 (155)
149 UK 10K study - Twins NC_000014.8 - 74404756 Oct 12, 2018 (152)
150 A Vietnamese Genetic Variation Database NC_000014.8 - 74404756 Jul 13, 2019 (153)
151 ALFA NC_000014.9 - 73938053 Apr 27, 2021 (155)
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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
38060775, ss3930883381 NC_000014.8:74404755:T:A NC_000014.9:73938052:T:A (self)
155148, ss89994090, ss200259605, ss211538713, ss282062478, ss286868735, ss291628754, ss483330742, ss491690227, ss1397684843, ss1695315369 NC_000014.7:73474508:T:C NC_000014.9:73938052:T:C (self)
64626729, 35912492, 25449261, 1903906, 87190, 3667711, 10081308, 1322312, 16037948, 38060775, 493338, 13804541, 915053, 243460, 16723577, 33847712, 9015213, 71903485, 35912492, 7987849, ss226649010, ss236601936, ss243023534, ss342391550, ss483140408, ss491072220, ss491487185, ss535362728, ss564185546, ss659876297, ss779498761, ss780702961, ss782013556, ss783377313, ss834968971, ss974489169, ss991311406, ss1067547035, ss1079776299, ss1351622337, ss1427469135, ss1577350213, ss1584090729, ss1632069797, ss1675063830, ss1691552882, ss1711377578, ss1752141730, ss1917890487, ss1934681647, ss1946380954, ss1959566244, ss1967997742, ss2028122651, ss2156498859, ss2628549963, ss2633170913, ss2700931093, ss2740826034, ss2749170331, ss2929461574, ss2985026029, ss2985658843, ss3012455172, ss3021583212, ss3023068649, ss3350878776, ss3627255234, ss3627255235, ss3631167882, ss3634584157, ss3640291484, ss3644634079, ss3646462471, ss3651978064, ss3653797208, ss3679711013, ss3740519676, ss3744413789, ss3744884774, ss3752513366, ss3772383551, ss3787708692, ss3792739907, ss3797624276, ss3824864987, ss3825529469, ss3825544522, ss3825848915, ss3833999614, ss3881830732, ss3930883381, ss3984059610, ss3984693943, ss3985689126, ss3986624698, ss5213934178, ss5315748721, ss5416244578, ss5511297966, ss5623962519, ss5624046755, ss5656528059, ss5799452002, ss5800067022, ss5800188808, ss5841324661, ss5847726071, ss5848387878, ss5936557879, ss5947975955, ss5981285418 NC_000014.8:74404755:T:C NC_000014.9:73938052:T:C (self)
84844070, 455669477, 31618320, 1020588, 100779046, 191557983, 2163063527, ss2203262438, ss3027886070, ss3696986470, ss3725460843, ss3771799119, ss3817840842, ss3975240319, ss4976012324, ss5236918473, ss5237227018, ss5296766598, ss5490757585, ss5597318135, ss5766941942, ss5814886068, ss5851100153 NC_000014.9:73938052:T:C NC_000014.9:73938052:T:C (self)
ss38338824, ss69376257, ss106398059, ss134048697, ss159729598 NT_026437.12:55404755:T:C NC_000014.9:73938052:T:C (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 rs28927675

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