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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.

rs8176058

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:142957921 (GRCh38.p14) Help

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

Alleles
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.026438 (6998/264690, TOPMED)
A=0.026898 (6762/251390, GnomAD_exome)
A=0.040252 (8837/219544, ALFA) (+ 23 more)
A=0.026600 (3729/140186, GnomAD)
A=0.027438 (3325/121184, ExAC)
A=0.01318 (1037/78700, PAGE_STUDY)
C=0.00057 (16/28258, 14KJPN)
C=0.00054 (9/16758, 8.3KJPN)
A=0.0114 (73/6404, 1000G_30x)
A=0.0124 (62/5008, 1000G)
A=0.0357 (160/4480, Estonian)
A=0.0402 (155/3854, ALSPAC)
A=0.0515 (191/3708, TWINSUK)
C=0.0003 (1/2922, KOREAN)
A=0.0174 (22/1262, HapMap)
A=0.0194 (22/1132, Daghestan)
A=0.029 (29/998, GoNL)
A=0.030 (18/600, NorthernSweden)
A=0.043 (23/534, MGP)
A=0.023 (7/304, FINRISK)
A=0.060 (13/216, Qatari)
A=0.07 (3/40, GENOME_DK)
G=0.50 (8/16, SGDP_PRJ)
A=0.50 (8/16, SGDP_PRJ)
G=0.5 (1/2, Siberian)
A=0.5 (1/2, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
KEL : Missense Variant
Publications
5 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 236034 G=0.960307 A=0.039693
European Sub 197434 G=0.956780 A=0.043220
African Sub 11764 G=0.98997 A=0.01003
African Others Sub 416 G=0.998 A=0.002
African American Sub 11348 G=0.98969 A=0.01031
Asian Sub 6340 G=0.9997 A=0.0003
East Asian Sub 4488 G=0.9998 A=0.0002
Other Asian Sub 1852 G=0.9995 A=0.0005
Latin American 1 Sub 898 G=0.973 A=0.027
Latin American 2 Sub 1252 G=0.9728 A=0.0272
South Asian Sub 302 G=0.977 A=0.023
Other Sub 18044 G=0.96392 A=0.03608


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 G=0.973562 A=0.026438
gnomAD - Exomes Global Study-wide 251390 G=0.973102 A=0.026898
gnomAD - Exomes European Sub 135338 G=0.963248 A=0.036752
gnomAD - Exomes Asian Sub 49004 G=0.99241 A=0.00759
gnomAD - Exomes American Sub 34580 G=0.98589 A=0.01411
gnomAD - Exomes African Sub 16254 G=0.99157 A=0.00843
gnomAD - Exomes Ashkenazi Jewish Sub 10076 G=0.94174 A=0.05826
gnomAD - Exomes Other Sub 6138 G=0.9668 A=0.0332
Allele Frequency Aggregator Total Global 219544 G=0.959748 A=0.040252
Allele Frequency Aggregator European Sub 187234 G=0.956765 A=0.043235
Allele Frequency Aggregator Other Sub 16592 G=0.96396 A=0.03604
Allele Frequency Aggregator African Sub 6926 G=0.9889 A=0.0111
Allele Frequency Aggregator Asian Sub 6340 G=0.9997 A=0.0003
Allele Frequency Aggregator Latin American 2 Sub 1252 G=0.9728 A=0.0272
Allele Frequency Aggregator Latin American 1 Sub 898 G=0.973 A=0.027
Allele Frequency Aggregator South Asian Sub 302 G=0.977 A=0.023
gnomAD - Genomes Global Study-wide 140186 G=0.973400 A=0.026600
gnomAD - Genomes European Sub 75934 G=0.96241 A=0.03759
gnomAD - Genomes African Sub 41998 G=0.99098 A=0.00902
gnomAD - Genomes American Sub 13648 G=0.98102 A=0.01898
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.9434 A=0.0566
gnomAD - Genomes East Asian Sub 3132 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2150 G=0.9772 A=0.0228
ExAC Global Study-wide 121184 G=0.972562 A=0.027438
ExAC Europe Sub 73252 G=0.96087 A=0.03913
ExAC Asian Sub 25096 G=0.99167 A=0.00833
ExAC American Sub 11534 G=0.98830 A=0.01170
ExAC African Sub 10396 G=0.99096 A=0.00904
ExAC Other Sub 906 G=0.977 A=0.023
The PAGE Study Global Study-wide 78700 G=0.98682 A=0.01318
The PAGE Study AfricanAmerican Sub 32516 G=0.99087 A=0.00913
The PAGE Study Mexican Sub 10810 G=0.98104 A=0.01896
The PAGE Study Asian Sub 8318 G=0.9995 A=0.0005
The PAGE Study PuertoRican Sub 7918 G=0.9784 A=0.0216
The PAGE Study NativeHawaiian Sub 4534 G=0.9874 A=0.0126
The PAGE Study Cuban Sub 4228 G=0.9676 A=0.0324
The PAGE Study Dominican Sub 3828 G=0.9854 A=0.0146
The PAGE Study CentralAmerican Sub 2450 G=0.9869 A=0.0131
The PAGE Study SouthAmerican Sub 1982 G=0.9864 A=0.0136
The PAGE Study NativeAmerican Sub 1260 G=0.9722 A=0.0278
The PAGE Study SouthAsian Sub 856 G=0.981 A=0.019
14KJPN JAPANESE Study-wide 28258 G=0.99943 C=0.00057
8.3KJPN JAPANESE Study-wide 16758 G=0.99946 C=0.00054
1000Genomes_30x Global Study-wide 6404 G=0.9886 A=0.0114
1000Genomes_30x African Sub 1786 G=0.9989 A=0.0011
1000Genomes_30x Europe Sub 1266 G=0.9652 A=0.0348
1000Genomes_30x South Asian Sub 1202 G=0.9942 A=0.0058
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=0.980 A=0.020
1000Genomes Global Study-wide 5008 G=0.9876 A=0.0124
1000Genomes African Sub 1322 G=0.9977 A=0.0023
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=0.9622 A=0.0378
1000Genomes South Asian Sub 978 G=0.994 A=0.006
1000Genomes American Sub 694 G=0.978 A=0.022
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9643 A=0.0357
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9598 A=0.0402
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9485 A=0.0515
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9997 C=0.0003
HapMap Global Study-wide 1262 G=0.9826 A=0.0174
HapMap American Sub 596 G=0.978 A=0.022
HapMap African Sub 402 G=0.998 A=0.002
HapMap Europe Sub 176 G=0.955 A=0.045
HapMap Asian Sub 88 G=1.00 A=0.00
Genome-wide autozygosity in Daghestan Global Study-wide 1132 G=0.9806 A=0.0194
Genome-wide autozygosity in Daghestan Daghestan Sub 624 G=0.984 A=0.016
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.972 A=0.028
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=1.000 A=0.000
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.963 A=0.037
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.99 A=0.01
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.92 A=0.08
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.971 A=0.029
Northern Sweden ACPOP Study-wide 600 G=0.970 A=0.030
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.957 A=0.043
FINRISK Finnish from FINRISK project Study-wide 304 G=0.977 A=0.023
Qatari Global Study-wide 216 G=0.940 A=0.060
The Danish reference pan genome Danish Study-wide 40 G=0.93 A=0.07
SGDP_PRJ Global Study-wide 16 G=0.50 A=0.50
Siberian Global Study-wide 2 G=0.5 A=0.5
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.142957921G>A
GRCh38.p14 chr 7 NC_000007.14:g.142957921G>C
GRCh37.p13 chr 7 NC_000007.13:g.142655008G>A
GRCh37.p13 chr 7 NC_000007.13:g.142655008G>C
Kell blood group RefSeqGene (LRG_799) NG_007492.3:g.9496C>T
Kell blood group RefSeqGene (LRG_799) NG_007492.3:g.9496C>G
GRCh38.p14 chr 7 alt locus HSCHR7_2_CTG6 NT_187562.1:g.980988G>A
GRCh38.p14 chr 7 alt locus HSCHR7_2_CTG6 NT_187562.1:g.980988G>C
GRCh37.p13 chr 7 fix patch HG7_PATCH NW_003571040.1:g.1160668G>A
GRCh37.p13 chr 7 fix patch HG7_PATCH NW_003571040.1:g.1160668G>C
Gene: KEL, Kell metallo-endopeptidase (Kell blood group) (minus strand)
Molecule type Change Amino acid[Codon] SO Term
KEL transcript NM_000420.3:c.578C>T T [ACG] > M [ATG] Coding Sequence Variant
kell blood group glycoprotein NP_000411.1:p.Thr193Met T (Thr) > M (Met) Missense Variant
KEL transcript NM_000420.3:c.578C>G T [ACG] > R [AGG] Coding Sequence Variant
kell blood group glycoprotein NP_000411.1:p.Thr193Arg T (Thr) > R (Arg) Missense Variant
KEL transcript variant X1 XM_005249993.2:c.614C>T T [ACG] > M [ATG] Coding Sequence Variant
kell blood group glycoprotein isoform X1 XP_005250050.1:p.Thr205Met T (Thr) > M (Met) Missense Variant
KEL transcript variant X1 XM_005249993.2:c.614C>G T [ACG] > R [AGG] Coding Sequence Variant
kell blood group glycoprotein isoform X1 XP_005250050.1:p.Thr205Arg T (Thr) > R (Arg) Missense Variant
KEL transcript variant X2 XM_047420357.1:c.578C>T T [ACG] > M [ATG] Coding Sequence Variant
kell blood group glycoprotein isoform X2 XP_047276313.1:p.Thr193Met T (Thr) > M (Met) Missense Variant
KEL transcript variant X2 XM_047420357.1:c.578C>G T [ACG] > R [AGG] Coding Sequence Variant
kell blood group glycoprotein isoform X2 XP_047276313.1:p.Thr193Arg T (Thr) > R (Arg) 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: A (allele ID: 32761 )
ClinVar Accession Disease Names Clinical Significance
RCV000019295.2 KELL K/k BLOOD GROUP POLYMORPHISM 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 G= A C
GRCh38.p14 chr 7 NC_000007.14:g.142957921= NC_000007.14:g.142957921G>A NC_000007.14:g.142957921G>C
GRCh37.p13 chr 7 NC_000007.13:g.142655008= NC_000007.13:g.142655008G>A NC_000007.13:g.142655008G>C
Kell blood group RefSeqGene (LRG_799) NG_007492.3:g.9496= NG_007492.3:g.9496C>T NG_007492.3:g.9496C>G
KEL transcript NM_000420.3:c.578= NM_000420.3:c.578C>T NM_000420.3:c.578C>G
KEL transcript NM_000420.2:c.578= NM_000420.2:c.578C>T NM_000420.2:c.578C>G
GRCh38.p14 chr 7 alt locus HSCHR7_2_CTG6 NT_187562.1:g.980988= NT_187562.1:g.980988G>A NT_187562.1:g.980988G>C
GRCh37.p13 chr 7 fix patch HG7_PATCH NW_003571040.1:g.1160668= NW_003571040.1:g.1160668G>A NW_003571040.1:g.1160668G>C
KEL transcript variant X1 XM_005249993.2:c.614= XM_005249993.2:c.614C>T XM_005249993.2:c.614C>G
KEL transcript variant X1 XM_005249993.1:c.614= XM_005249993.1:c.614C>T XM_005249993.1:c.614C>G
KEL transcript variant X2 XM_047420357.1:c.578= XM_047420357.1:c.578C>T XM_047420357.1:c.578C>G
kell blood group glycoprotein NP_000411.1:p.Thr193= NP_000411.1:p.Thr193Met NP_000411.1:p.Thr193Arg
kell blood group glycoprotein isoform X1 XP_005250050.1:p.Thr205= XP_005250050.1:p.Thr205Met XP_005250050.1:p.Thr205Arg
kell blood group glycoprotein isoform X2 XP_047276313.1:p.Thr193= XP_047276313.1:p.Thr193Met XP_047276313.1:p.Thr193Arg
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#.

97 SubSNP, 24 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 PGA-UW-FHCRC ss6904396 Aug 27, 2003 (117)
2 PERLEGEN ss69030704 May 16, 2007 (127)
3 SI_EXO ss69382877 May 16, 2007 (127)
4 AFFY ss74819468 Aug 16, 2007 (128)
5 ILLUMINA ss74898970 Dec 07, 2007 (129)
6 AFFY ss76629827 Dec 07, 2007 (129)
7 NCBI ss86351851 Mar 18, 2008 (129)
8 NCBI ss86351852 Mar 18, 2008 (129)
9 KRIBB_YJKIM ss119586058 Dec 01, 2009 (131)
10 ILLUMINA ss174731629 Jul 04, 2010 (132)
11 1000GENOMES ss234203072 Jul 15, 2010 (132)
12 OMICIA ss244238632 Aug 29, 2012 (137)
13 OMIM-CURATED-RECORDS ss275517993 Dec 03, 2010 (133)
14 NHLBI-ESP ss342248808 May 09, 2011 (134)
15 ILLUMINA ss483737573 May 04, 2012 (137)
16 ILLUMINA ss485366635 May 04, 2012 (137)
17 1000GENOMES ss490956213 May 04, 2012 (137)
18 EXOME_CHIP ss491407007 May 04, 2012 (137)
19 CLINSEQ_SNP ss491916889 May 04, 2012 (137)
20 ILLUMINA ss535937881 Sep 08, 2015 (146)
21 TISHKOFF ss560361743 Apr 25, 2013 (138)
22 ILLUMINA ss779515325 Sep 08, 2015 (146)
23 ILLUMINA ss780865250 Sep 08, 2015 (146)
24 ILLUMINA ss782312330 Sep 08, 2015 (146)
25 ILLUMINA ss783549898 Sep 08, 2015 (146)
26 ILLUMINA ss834985738 Sep 08, 2015 (146)
27 EVA-GONL ss984898374 Aug 21, 2014 (142)
28 1000GENOMES ss1327515519 Aug 21, 2014 (142)
29 HAMMER_LAB ss1397508655 Sep 08, 2015 (146)
30 DDI ss1431308385 Apr 01, 2015 (144)
31 EVA_GENOME_DK ss1582439594 Apr 01, 2015 (144)
32 EVA_FINRISK ss1584055732 Apr 01, 2015 (144)
33 EVA_DECODE ss1594487957 Apr 01, 2015 (144)
34 EVA_UK10K_ALSPAC ss1619419570 Apr 01, 2015 (144)
35 EVA_UK10K_TWINSUK ss1662413603 Apr 01, 2015 (144)
36 EVA_EXAC ss1688995808 Apr 01, 2015 (144)
37 EVA_MGP ss1711184089 Apr 01, 2015 (144)
38 ILLUMINA ss1752668790 Sep 08, 2015 (146)
39 ILLUMINA ss1917823244 Feb 12, 2016 (147)
40 WEILL_CORNELL_DGM ss1928154577 Feb 12, 2016 (147)
41 ILLUMINA ss1946223182 Feb 12, 2016 (147)
42 ILLUMINA ss1959059923 Feb 12, 2016 (147)
43 JJLAB ss2024767022 Sep 14, 2016 (149)
44 USC_VALOUEV ss2152992302 Dec 20, 2016 (150)
45 HUMAN_LONGEVITY ss2298635966 Dec 20, 2016 (150)
46 ILLUMINA ss2634672044 Nov 08, 2017 (151)
47 GNOMAD ss2736843222 Nov 08, 2017 (151)
48 GNOMAD ss2747948229 Nov 08, 2017 (151)
49 GNOMAD ss2860196701 Nov 08, 2017 (151)
50 AFFY ss2985423480 Nov 08, 2017 (151)
51 SWEGEN ss3002198639 Nov 08, 2017 (151)
52 ILLUMINA ss3022788761 Nov 08, 2017 (151)
53 CSHL ss3347888940 Nov 08, 2017 (151)
54 ILLUMINA ss3629935394 Oct 12, 2018 (152)
55 ILLUMINA ss3629935395 Oct 12, 2018 (152)
56 ILLUMINA ss3632575687 Oct 12, 2018 (152)
57 ILLUMINA ss3635145990 Oct 12, 2018 (152)
58 ILLUMINA ss3638729345 Oct 12, 2018 (152)
59 ILLUMINA ss3640853281 Oct 12, 2018 (152)
60 ILLUMINA ss3643662686 Oct 12, 2018 (152)
61 ILLUMINA ss3644956343 Oct 12, 2018 (152)
62 ILLUMINA ss3653324727 Oct 12, 2018 (152)
63 ILLUMINA ss3654184791 Oct 12, 2018 (152)
64 EGCUT_WGS ss3669946206 Jul 13, 2019 (153)
65 EVA_DECODE ss3720882492 Jul 13, 2019 (153)
66 ILLUMINA ss3726489872 Jul 13, 2019 (153)
67 ACPOP ss3735154006 Jul 13, 2019 (153)
68 ILLUMINA ss3744574421 Jul 13, 2019 (153)
69 ILLUMINA ss3745445945 Jul 13, 2019 (153)
70 PAGE_CC ss3771404802 Jul 13, 2019 (153)
71 ILLUMINA ss3772938656 Jul 13, 2019 (153)
72 KHV_HUMAN_GENOMES ss3810440287 Jul 13, 2019 (153)
73 EVA ss3824327774 Apr 26, 2020 (154)
74 EVA ss3825731046 Apr 26, 2020 (154)
75 SGDP_PRJ ss3868594709 Apr 26, 2020 (154)
76 KRGDB ss3915979068 Apr 26, 2020 (154)
77 FSA-LAB ss3984384823 Apr 26, 2021 (155)
78 FSA-LAB ss3984384824 Apr 26, 2021 (155)
79 EVA ss3986405013 Apr 26, 2021 (155)
80 TOPMED ss4767075571 Apr 26, 2021 (155)
81 TOMMO_GENOMICS ss5186018527 Apr 26, 2021 (155)
82 EVA ss5237038289 Apr 26, 2021 (155)
83 EVA ss5237650336 Oct 13, 2022 (156)
84 1000G_HIGH_COVERAGE ss5275080181 Oct 13, 2022 (156)
85 TRAN_CS_UWATERLOO ss5314421664 Oct 13, 2022 (156)
86 EVA ss5377397109 Oct 13, 2022 (156)
87 HUGCELL_USP ss5471927652 Oct 13, 2022 (156)
88 1000G_HIGH_COVERAGE ss5564408737 Oct 13, 2022 (156)
89 SANFORD_IMAGENETICS ss5624677747 Oct 13, 2022 (156)
90 SANFORD_IMAGENETICS ss5644176845 Oct 13, 2022 (156)
91 TOMMO_GENOMICS ss5727159084 Oct 13, 2022 (156)
92 EVA ss5823655869 Oct 13, 2022 (156)
93 EVA ss5848157361 Oct 13, 2022 (156)
94 EVA ss5848695797 Oct 13, 2022 (156)
95 EVA ss5861272444 Oct 13, 2022 (156)
96 EVA ss5973383167 Oct 13, 2022 (156)
97 EVA ss5979844524 Oct 13, 2022 (156)
98 1000Genomes NC_000007.13 - 142655008 Oct 12, 2018 (152)
99 1000Genomes_30x NC_000007.14 - 142957921 Oct 13, 2022 (156)
100 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 142655008 Oct 12, 2018 (152)
101 Genome-wide autozygosity in Daghestan NC_000007.12 - 142365130 Apr 26, 2020 (154)
102 Genetic variation in the Estonian population NC_000007.13 - 142655008 Oct 12, 2018 (152)
103 ExAC NC_000007.13 - 142655008 Oct 12, 2018 (152)
104 FINRISK NC_000007.13 - 142655008 Apr 26, 2020 (154)
105 The Danish reference pan genome NC_000007.13 - 142655008 Apr 26, 2020 (154)
106 gnomAD - Genomes NC_000007.14 - 142957921 Apr 26, 2021 (155)
107 gnomAD - Exomes NC_000007.13 - 142655008 Jul 13, 2019 (153)
108 Genome of the Netherlands Release 5 NC_000007.13 - 142655008 Apr 26, 2020 (154)
109 HapMap NC_000007.14 - 142957921 Apr 26, 2020 (154)
110 KOREAN population from KRGDB NC_000007.13 - 142655008 Apr 26, 2020 (154)
111 Medical Genome Project healthy controls from Spanish population NC_000007.13 - 142655008 Apr 26, 2020 (154)
112 Northern Sweden NC_000007.13 - 142655008 Jul 13, 2019 (153)
113 The PAGE Study NC_000007.14 - 142957921 Jul 13, 2019 (153)
114 Qatari NC_000007.13 - 142655008 Apr 26, 2020 (154)
115 SGDP_PRJ NC_000007.13 - 142655008 Apr 26, 2020 (154)
116 Siberian NC_000007.13 - 142655008 Apr 26, 2020 (154)
117 8.3KJPN NC_000007.13 - 142655008 Apr 26, 2021 (155)
118 14KJPN NC_000007.14 - 142957921 Oct 13, 2022 (156)
119 TopMed NC_000007.14 - 142957921 Apr 26, 2021 (155)
120 UK 10K study - Twins NC_000007.13 - 142655008 Oct 12, 2018 (152)
121 ALFA NC_000007.14 - 142957921 Apr 26, 2021 (155)
122 ClinVar RCV000019295.2 Oct 12, 2018 (152)
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)
rs52803319 Sep 21, 2007 (128)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
482651, ss485366635, ss491916889, ss1397508655, ss1594487957, ss3643662686 NC_000007.12:142365129:G:A NC_000007.14:142957920:G:A (self)
39573448, 22025538, 15684454, 9081958, 52193, 8604532, 6008791, 9826212, 299849, 8438871, 10196507, 20611689, 5508656, 22025538, ss234203072, ss342248808, ss483737573, ss490956213, ss491407007, ss535937881, ss560361743, ss779515325, ss780865250, ss782312330, ss783549898, ss834985738, ss984898374, ss1327515519, ss1431308385, ss1582439594, ss1584055732, ss1619419570, ss1662413603, ss1688995808, ss1711184089, ss1752668790, ss1917823244, ss1928154577, ss1946223182, ss1959059923, ss2024767022, ss2152992302, ss2634672044, ss2736843222, ss2747948229, ss2860196701, ss2985423480, ss3002198639, ss3022788761, ss3347888940, ss3629935394, ss3629935395, ss3632575687, ss3635145990, ss3638729345, ss3640853281, ss3644956343, ss3653324727, ss3654184791, ss3669946206, ss3735154006, ss3744574421, ss3745445945, ss3772938656, ss3824327774, ss3825731046, ss3868594709, ss3984384823, ss3984384824, ss3986405013, ss5377397109, ss5624677747, ss5644176845, ss5823655869, ss5848157361, ss5848695797, ss5973383167, ss5979844524 NC_000007.13:142655007:G:A NC_000007.14:142957920:G:A (self)
RCV000019295.2, 51934672, 279455269, 3512414, 626271, 604453130, 10099225614, ss86351851, ss244238632, ss275517993, ss2298635966, ss3720882492, ss3726489872, ss3771404802, ss3810440287, ss4767075571, ss5237038289, ss5237650336, ss5275080181, ss5314421664, ss5471927652, ss5564408737, ss5861272444 NC_000007.14:142957920:G:A NC_000007.14:142957920:G:A (self)
ss6904396, ss69030704, ss69382877, ss74819468, ss74898970, ss76629827, ss119586058, ss174731629 NT_007914.15:3250630:G:A NC_000007.14:142957920:G:A (self)
23156462, 43987834, ss3915979068, ss5186018527 NC_000007.13:142655007:G:C NC_000007.14:142957920:G:C (self)
60996188, ss86351852, ss5727159084 NC_000007.14:142957920:G:C NC_000007.14:142957920:G:C (self)
Help

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

5 citations for rs8176058
PMID Title Author Year Journal
7849312 Molecular basis of the Kell (K1) phenotype. Lee S et al. 1995 Blood
8652402 Kell typing by allele-specific PCR (ASP). Avent ND et al. 1996 British journal of haematology
21257350 DNA-based methods in the immunohematology reference laboratory. Reid ME et al. 2011 Transfusion and apheresis science
33877261 Blood groups in Native Americans: a look beyond ABO and Rh. Rodrigues MMO et al. 2021 Genetics and molecular biology
33925253 Risk Minimization of Hemolytic Disease of the Fetus and Newborn Using Droplet Digital PCR Method for Accurate Fetal Genotype Assessment of RHD, KEL, and RHCE from Cell-Free Fetal DNA of Maternal Plasma. Vodicka R et al. 2021 Diagnostics (Basel, Switzerland)
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