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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs9574

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:35176829 (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>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.391688 (103676/264690, TOPMED)
G=0.27751 (7842/28258, 14KJPN)
C=0.48716 (8767/17996, ALFA) (+ 17 more)
G=0.28174 (4722/16760, 8.3KJPN)
C=0.35753 (4650/13006, GO-ESP)
C=0.3851 (2466/6404, 1000G_30x)
C=0.3930 (1968/5008, 1000G)
C=0.4190 (1877/4480, Estonian)
G=0.3177 (931/2930, KOREAN)
C=0.386 (385/998, GoNL)
G=0.311 (246/792, PRJEB37584)
C=0.445 (267/600, NorthernSweden)
G=0.086 (46/534, MGP)
C=0.243 (105/432, SGDP_PRJ)
C=0.425 (137/322, HapMap)
C=0.405 (123/304, FINRISK)
C=0.347 (75/216, Qatari)
G=0.429 (90/210, Vietnamese)
G=0.47 (19/40, GENOME_DK)
C=0.47 (17/36, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PROCR : Intron Variant
MMP24-AS1-EDEM2 : Intron Variant
Publications
6 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 17996 C=0.48716 A=0.00122, G=0.51161, T=0.00000
European Sub 14250 C=0.49053 A=0.00084, G=0.50863, T=0.00000
African Sub 832 C=0.364 A=0.004, G=0.632, T=0.000
African Others Sub 14 C=0.00 A=0.00, G=1.00, T=0.00
African American Sub 818 C=0.370 A=0.004, G=0.626, T=0.000
Asian Sub 102 C=0.804 A=0.000, G=0.196, T=0.000
East Asian Sub 68 C=0.85 A=0.00, G=0.15, T=0.00
Other Asian Sub 34 C=0.71 A=0.00, G=0.29, T=0.00
Latin American 1 Sub 28 C=1.00 A=0.00, G=0.00, T=0.00
Latin American 2 Sub 196 C=1.000 A=0.000, G=0.000, T=0.000
South Asian Sub 16 C=0.75 A=0.00, G=0.25, T=0.00
Other Sub 2572 C=0.4495 A=0.0027, G=0.5478, T=0.0000


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=0.391688 G=0.608312
14KJPN JAPANESE Study-wide 28258 C=0.72249 G=0.27751
Allele Frequency Aggregator Total Global 17996 C=0.48716 A=0.00122, G=0.51161, T=0.00000
Allele Frequency Aggregator European Sub 14250 C=0.49053 A=0.00084, G=0.50863, T=0.00000
Allele Frequency Aggregator Other Sub 2572 C=0.4495 A=0.0027, G=0.5478, T=0.0000
Allele Frequency Aggregator African Sub 832 C=0.364 A=0.004, G=0.632, T=0.000
Allele Frequency Aggregator Latin American 2 Sub 196 C=1.000 A=0.000, G=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 102 C=0.804 A=0.000, G=0.196, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 28 C=1.00 A=0.00, G=0.00, T=0.00
Allele Frequency Aggregator South Asian Sub 16 C=0.75 A=0.00, G=0.25, T=0.00
8.3KJPN JAPANESE Study-wide 16760 C=0.71826 G=0.28174
GO Exome Sequencing Project Global Study-wide 13006 C=0.35753 G=0.64247
GO Exome Sequencing Project European American Sub 8600 C=0.4366 G=0.5634
GO Exome Sequencing Project African American Sub 4406 C=0.2031 G=0.7969
1000Genomes_30x Global Study-wide 6404 C=0.3851 A=0.0012, G=0.6137
1000Genomes_30x African Sub 1786 C=0.1293 A=0.0000, G=0.8707
1000Genomes_30x Europe Sub 1266 C=0.4866 A=0.0000, G=0.5134
1000Genomes_30x South Asian Sub 1202 C=0.3136 A=0.0042, G=0.6822
1000Genomes_30x East Asian Sub 1170 C=0.6179 A=0.0000, G=0.3821
1000Genomes_30x American Sub 980 C=0.530 A=0.003, G=0.467
1000Genomes Global Study-wide 5008 C=0.3930 A=0.0014, G=0.6056
1000Genomes African Sub 1322 C=0.1293 A=0.0000, G=0.8707
1000Genomes East Asian Sub 1008 C=0.6280 A=0.0000, G=0.3720
1000Genomes Europe Sub 1006 C=0.4831 A=0.0000, G=0.5169
1000Genomes South Asian Sub 978 C=0.310 A=0.005, G=0.685
1000Genomes American Sub 694 C=0.540 A=0.003, G=0.457
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.4190 G=0.5810
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.6823 G=0.3177
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.386 G=0.614
CNV burdens in cranial meningiomas Global Study-wide 792 C=0.689 G=0.311
CNV burdens in cranial meningiomas CRM Sub 792 C=0.689 G=0.311
Northern Sweden ACPOP Study-wide 600 C=0.445 G=0.555
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.914 G=0.086
SGDP_PRJ Global Study-wide 432 C=0.243 A=0.005, G=0.752
HapMap Global Study-wide 322 C=0.425 G=0.575
HapMap African Sub 118 C=0.169 G=0.831
HapMap American Sub 116 C=0.457 G=0.543
HapMap Asian Sub 88 C=0.73 G=0.27
FINRISK Finnish from FINRISK project Study-wide 304 C=0.405 G=0.595
Qatari Global Study-wide 216 C=0.347 G=0.653
A Vietnamese Genetic Variation Database Global Study-wide 210 C=0.571 G=0.429
The Danish reference pan genome Danish Study-wide 40 C=0.53 G=0.47
Siberian Global Study-wide 36 C=0.47 G=0.53
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 20 NC_000020.11:g.35176829C>A
GRCh38.p14 chr 20 NC_000020.11:g.35176829C>G
GRCh38.p14 chr 20 NC_000020.11:g.35176829C>T
GRCh37.p13 chr 20 NC_000020.10:g.33764632C>A
GRCh37.p13 chr 20 NC_000020.10:g.33764632C>G
GRCh37.p13 chr 20 NC_000020.10:g.33764632C>T
PROCR RefSeqGene (LRG_638) NG_032899.2:g.9859C>A
PROCR RefSeqGene (LRG_638) NG_032899.2:g.9859C>G
PROCR RefSeqGene (LRG_638) NG_032899.2:g.9859C>T
Gene: MMP24-AS1-EDEM2, MMP24-AS1-EDEM2 readthrough (minus strand)
Molecule type Change Amino acid[Codon] SO Term
MMP24-AS1-EDEM2 transcript NM_001355008.2:c.-101-109…

NM_001355008.2:c.-101-10958G>T

 		N/A Intron Variant
Gene: PROCR, protein C receptor (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PROCR transcript NM_006404.5:c.*16= N/A 3 Prime UTR Variant
PROCR transcript variant X2 XM_011528496.2:c.712+383C…

XM_011528496.2:c.712+383C>A

 		N/A Intron Variant
PROCR transcript variant X1 XM_047439830.1:c.*16= N/A 3 Prime UTR Variant
PROCR transcript variant X3 XM_047439831.1:c.*16= N/A 3 Prime UTR 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 C= A G T
GRCh38.p14 chr 20 NC_000020.11:g.35176829= NC_000020.11:g.35176829C>A NC_000020.11:g.35176829C>G NC_000020.11:g.35176829C>T
GRCh37.p13 chr 20 NC_000020.10:g.33764632= NC_000020.10:g.33764632C>A NC_000020.10:g.33764632C>G NC_000020.10:g.33764632C>T
PROCR RefSeqGene (LRG_638) NG_032899.2:g.9859= NG_032899.2:g.9859C>A NG_032899.2:g.9859C>G NG_032899.2:g.9859C>T
PROCR transcript NM_006404.5:c.*16= NM_006404.5:c.*16C>A NM_006404.5:c.*16C>G NM_006404.5:c.*16C>T
PROCR transcript NM_006404.4:c.*16= NM_006404.4:c.*16C>A NM_006404.4:c.*16C>G NM_006404.4:c.*16C>T
PROCR transcript variant X1 XM_047439830.1:c.*16= XM_047439830.1:c.*16C>A XM_047439830.1:c.*16C>G XM_047439830.1:c.*16C>T
PROCR transcript variant X3 XM_047439831.1:c.*16= XM_047439831.1:c.*16C>A XM_047439831.1:c.*16C>G XM_047439831.1:c.*16C>T
MMP24-AS1-EDEM2 transcript NM_001355008.2:c.-101-10958= NM_001355008.2:c.-101-10958G>T NM_001355008.2:c.-101-10958G>C NM_001355008.2:c.-101-10958G>A
PROCR transcript variant X1 XM_005260251.1:c.601+383= XM_005260251.1:c.601+383C>A XM_005260251.1:c.601+383C>G XM_005260251.1:c.601+383C>T
PROCR transcript variant X2 XM_011528496.2:c.712+383= XM_011528496.2:c.712+383C>A XM_011528496.2:c.712+383C>G XM_011528496.2:c.712+383C>T
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#.

138 SubSNP, 31 Frequency submissions
No Submitter Submission ID Date (Build)
1 CGAP-GAI ss11675 Sep 19, 2000 (52)
2 TSC-CSHL ss1387744 Oct 04, 2000 (86)
3 LEE ss1526226 Oct 04, 2000 (86)
4 PGA-UW-FHCRC ss2982094 Jun 15, 2001 (96)
5 YUSUKE ss3236957 Sep 28, 2001 (100)
6 SC_JCM ss4365402 Mar 26, 2002 (103)
7 LEE ss4394780 May 29, 2002 (106)
8 LEE ss4416639 May 29, 2002 (106)
9 SC_SNP ss8372705 Apr 21, 2003 (114)
10 CGAP-GAI ss16242271 Feb 27, 2004 (120)
11 SSAHASNP ss21783805 Apr 05, 2004 (121)
12 ABI ss41396065 Mar 15, 2006 (126)
13 SI_EXO ss52083775 Oct 16, 2006 (127)
14 PGA-UW-FHCRC ss52088449 Oct 16, 2006 (127)
15 ILLUMINA ss65744584 Oct 16, 2006 (127)
16 CGM_KYOTO ss76874705 Dec 06, 2007 (129)
17 HGSV ss84262129 Dec 15, 2007 (130)
18 BCMHGSC_JDW ss91689306 Mar 24, 2008 (129)
19 HUMANGENOME_JCVI ss96226695 Feb 05, 2009 (130)
20 1000GENOMES ss111936572 Jan 25, 2009 (130)
21 ILLUMINA-UK ss117534095 Feb 14, 2009 (130)
22 ENSEMBL ss135722858 Dec 01, 2009 (131)
23 GMI ss156391962 Dec 01, 2009 (131)
24 ILLUMINA ss161000454 Dec 01, 2009 (131)
25 COMPLETE_GENOMICS ss168083123 Jul 04, 2010 (132)
26 ILLUMINA ss168994567 Jul 04, 2010 (132)
27 COMPLETE_GENOMICS ss169515603 Jul 04, 2010 (132)
28 COMPLETE_GENOMICS ss172055791 Jul 04, 2010 (132)
29 ILLUMINA ss174870398 Jul 04, 2010 (132)
30 BUSHMAN ss203878610 Jul 04, 2010 (132)
31 BCM-HGSC-SUB ss208764823 Jul 04, 2010 (132)
32 1000GENOMES ss212019022 Jul 14, 2010 (132)
33 1000GENOMES ss228335922 Jul 14, 2010 (132)
34 1000GENOMES ss237820558 Jul 15, 2010 (132)
35 1000GENOMES ss243993917 Jul 15, 2010 (132)
36 GMI ss283369745 May 04, 2012 (137)
37 GMI ss287453310 Apr 25, 2013 (138)
38 PJP ss292645656 May 09, 2011 (134)
39 ILLUMINA ss481940066 May 04, 2012 (137)
40 ILLUMINA ss481973410 May 04, 2012 (137)
41 ILLUMINA ss482929581 Sep 08, 2015 (146)
42 ILLUMINA ss485763736 May 04, 2012 (137)
43 1000GENOMES ss491175804 May 04, 2012 (137)
44 CLINSEQ_SNP ss491808580 May 04, 2012 (137)
45 ILLUMINA ss535466340 Sep 08, 2015 (146)
46 TISHKOFF ss566227369 Apr 25, 2013 (138)
47 SSMP ss662110022 Apr 25, 2013 (138)
48 NHLBI-ESP ss713568821 Apr 25, 2013 (138)
49 ILLUMINA ss778343153 Aug 21, 2014 (142)
50 ILLUMINA ss783327679 Aug 21, 2014 (142)
51 ILLUMINA ss784279453 Aug 21, 2014 (142)
52 ILLUMINA ss832589398 Apr 01, 2015 (144)
53 ILLUMINA ss833797784 Aug 21, 2014 (142)
54 EVA-GONL ss994689658 Aug 21, 2014 (142)
55 JMKIDD_LAB ss1082181529 Aug 21, 2014 (142)
56 1000GENOMES ss1364648847 Aug 21, 2014 (142)
57 1000GENOMES ss1364648848 Aug 21, 2014 (142)
58 DDI ss1429046434 Apr 01, 2015 (144)
59 EVA_GENOME_DK ss1579495128 Apr 01, 2015 (144)
60 EVA_FINRISK ss1584122645 Apr 01, 2015 (144)
61 EVA_UK10K_ALSPAC ss1638714451 Apr 01, 2015 (144)
62 EVA_UK10K_ALSPAC ss1638714452 Apr 01, 2015 (144)
63 EVA_UK10K_TWINSUK ss1681708484 Apr 01, 2015 (144)
64 EVA_UK10K_TWINSUK ss1681708485 Apr 01, 2015 (144)
65 EVA_EXAC ss1693967940 Apr 01, 2015 (144)
66 EVA_EXAC ss1693967941 Apr 01, 2015 (144)
67 EVA_DECODE ss1698748208 Apr 01, 2015 (144)
68 EVA_MGP ss1711539316 Apr 01, 2015 (144)
69 ILLUMINA ss1752383937 Sep 08, 2015 (146)
70 HAMMER_LAB ss1809487938 Sep 08, 2015 (146)
71 WEILL_CORNELL_DGM ss1938202793 Feb 12, 2016 (147)
72 JJLAB ss2029883351 Sep 14, 2016 (149)
73 USC_VALOUEV ss2158447979 Dec 20, 2016 (150)
74 HUMAN_LONGEVITY ss2242497088 Dec 20, 2016 (150)
75 SYSTEMSBIOZJU ss2629435476 Nov 08, 2017 (151)
76 ILLUMINA ss2633793936 Nov 08, 2017 (151)
77 GRF ss2704138300 Nov 08, 2017 (151)
78 GNOMAD ss2744561915 Nov 08, 2017 (151)
79 GNOMAD ss2750369331 Nov 08, 2017 (151)
80 GNOMAD ss2967074633 Nov 08, 2017 (151)
81 SWEGEN ss3018136511 Nov 08, 2017 (151)
82 BIOINF_KMB_FNS_UNIBA ss3028774710 Nov 08, 2017 (151)
83 CSHL ss3352498973 Nov 08, 2017 (151)
84 ILLUMINA ss3628383601 Oct 12, 2018 (152)
85 ILLUMINA ss3631750734 Oct 12, 2018 (152)
86 ILLUMINA ss3633249835 Oct 12, 2018 (152)
87 ILLUMINA ss3633963877 Oct 12, 2018 (152)
88 ILLUMINA ss3634833883 Oct 12, 2018 (152)
89 ILLUMINA ss3635648982 Oct 12, 2018 (152)
90 ILLUMINA ss3636527132 Oct 12, 2018 (152)
91 ILLUMINA ss3637401064 Oct 12, 2018 (152)
92 ILLUMINA ss3638343689 Oct 12, 2018 (152)
93 ILLUMINA ss3638343690 Oct 12, 2018 (152)
94 ILLUMINA ss3640541181 Oct 12, 2018 (152)
95 OMUKHERJEE_ADBS ss3646549256 Oct 12, 2018 (152)
96 URBANLAB ss3651015496 Oct 12, 2018 (152)
97 EGCUT_WGS ss3684816145 Jul 13, 2019 (153)
98 EVA_DECODE ss3706886434 Jul 13, 2019 (153)
99 ACPOP ss3743369038 Jul 13, 2019 (153)
100 ILLUMINA ss3745133780 Jul 13, 2019 (153)
101 EVA ss3758604075 Jul 13, 2019 (153)
102 ILLUMINA ss3772629992 Jul 13, 2019 (153)
103 PACBIO ss3788640612 Jul 13, 2019 (153)
104 PACBIO ss3793533968 Jul 13, 2019 (153)
105 PACBIO ss3798420863 Jul 13, 2019 (153)
106 KHV_HUMAN_GENOMES ss3821771933 Jul 13, 2019 (153)
107 EVA ss3825365462 Apr 27, 2020 (154)
108 EVA ss3835658468 Apr 27, 2020 (154)
109 EVA ss3841455686 Apr 27, 2020 (154)
110 EVA ss3846968163 Apr 27, 2020 (154)
111 SGDP_PRJ ss3889040470 Apr 27, 2020 (154)
112 KRGDB ss3939315956 Apr 27, 2020 (154)
113 FSA-LAB ss3984215846 Apr 27, 2021 (155)
114 EVA ss3984749391 Apr 27, 2021 (155)
115 EVA ss3986084127 Apr 27, 2021 (155)
116 EVA ss3986829005 Apr 27, 2021 (155)
117 TOPMED ss5087538775 Apr 27, 2021 (155)
118 EVA ss5142018990 Apr 27, 2021 (155)
119 TOMMO_GENOMICS ss5229506819 Apr 27, 2021 (155)
120 EVA ss5237251842 Apr 27, 2021 (155)
121 1000G_HIGH_COVERAGE ss5308692040 Oct 16, 2022 (156)
122 1000G_HIGH_COVERAGE ss5308692041 Oct 16, 2022 (156)
123 EVA ss5316005084 Oct 16, 2022 (156)
124 HUGCELL_USP ss5500979797 Oct 16, 2022 (156)
125 1000G_HIGH_COVERAGE ss5615100247 Oct 16, 2022 (156)
126 EVA ss5624113446 Oct 16, 2022 (156)
127 SANFORD_IMAGENETICS ss5663156455 Oct 16, 2022 (156)
128 TOMMO_GENOMICS ss5789262957 Oct 16, 2022 (156)
129 EVA ss5800074510 Oct 16, 2022 (156)
130 EVA ss5800229362 Oct 16, 2022 (156)
131 YY_MCH ss5818020725 Oct 16, 2022 (156)
132 EVA ss5845653505 Oct 16, 2022 (156)
133 EVA ss5845653506 Oct 16, 2022 (156)
134 EVA ss5848547202 Oct 16, 2022 (156)
135 EVA ss5853128860 Oct 16, 2022 (156)
136 EVA ss5958066693 Oct 16, 2022 (156)
137 EVA ss5981085454 Oct 16, 2022 (156)
138 EVA ss5981317084 Oct 16, 2022 (156)
139 1000Genomes NC_000020.10 - 33764632 Oct 12, 2018 (152)
140 1000Genomes_30x NC_000020.11 - 35176829 Oct 16, 2022 (156)
141 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 43235820 (NC_000020.10:33764631:C:C 1746/3854, NC_000020.10:33764631:C:G 2108/3854)
Row 43235821 (NC_000020.10:33764631:C:C 3853/3854, NC_000020.10:33764631:C:A 1/3854)

- Oct 12, 2018 (152)
142 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 43235820 (NC_000020.10:33764631:C:C 1746/3854, NC_000020.10:33764631:C:G 2108/3854)
Row 43235821 (NC_000020.10:33764631:C:C 3853/3854, NC_000020.10:33764631:C:A 1/3854)

- Oct 12, 2018 (152)
143 Genetic variation in the Estonian population NC_000020.10 - 33764632 Oct 12, 2018 (152)
144 ExAC

Submission ignored due to conflicting rows:
Row 5520892 (NC_000020.10:33764631:C:C 47767/113930, NC_000020.10:33764631:C:G 66163/113930)
Row 5520893 (NC_000020.10:33764631:C:C 113801/113930, NC_000020.10:33764631:C:A 129/113930)

- Oct 12, 2018 (152)
145 ExAC

Submission ignored due to conflicting rows:
Row 5520892 (NC_000020.10:33764631:C:C 47767/113930, NC_000020.10:33764631:C:G 66163/113930)
Row 5520893 (NC_000020.10:33764631:C:C 113801/113930, NC_000020.10:33764631:C:A 129/113930)

- Oct 12, 2018 (152)
146 FINRISK NC_000020.10 - 33764632 Apr 27, 2020 (154)
147 The Danish reference pan genome NC_000020.10 - 33764632 Apr 27, 2020 (154)
148 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 550970240 (NC_000020.11:35176828:C:A 48/139928)
Row 550970241 (NC_000020.11:35176828:C:G 86836/139854)
Row 550970242 (NC_000020.11:35176828:C:T 2/139926)

- Apr 27, 2021 (155)
149 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 550970240 (NC_000020.11:35176828:C:A 48/139928)
Row 550970241 (NC_000020.11:35176828:C:G 86836/139854)
Row 550970242 (NC_000020.11:35176828:C:T 2/139926)

- Apr 27, 2021 (155)
150 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 550970240 (NC_000020.11:35176828:C:A 48/139928)
Row 550970241 (NC_000020.11:35176828:C:G 86836/139854)
Row 550970242 (NC_000020.11:35176828:C:T 2/139926)

- Apr 27, 2021 (155)
151 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 13882739 (NC_000020.10:33764631:C:C 246203/246476, NC_000020.10:33764631:C:A 273/246476)
Row 13882740 (NC_000020.10:33764631:C:C 109845/246476, NC_000020.10:33764631:C:G 136631/246476)

- Jul 13, 2019 (153)
152 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 13882739 (NC_000020.10:33764631:C:C 246203/246476, NC_000020.10:33764631:C:A 273/246476)
Row 13882740 (NC_000020.10:33764631:C:C 109845/246476, NC_000020.10:33764631:C:G 136631/246476)

- Jul 13, 2019 (153)
153 GO Exome Sequencing Project NC_000020.10 - 33764632 Oct 12, 2018 (152)
154 Genome of the Netherlands Release 5 NC_000020.10 - 33764632 Apr 27, 2020 (154)
155 HapMap NC_000020.11 - 35176829 Apr 27, 2020 (154)
156 KOREAN population from KRGDB NC_000020.10 - 33764632 Apr 27, 2020 (154)
157 Medical Genome Project healthy controls from Spanish population NC_000020.10 - 33764632 Apr 27, 2020 (154)
158 Northern Sweden NC_000020.10 - 33764632 Jul 13, 2019 (153)
159 CNV burdens in cranial meningiomas NC_000020.10 - 33764632 Apr 27, 2021 (155)
160 Qatari NC_000020.10 - 33764632 Apr 27, 2020 (154)
161 SGDP_PRJ NC_000020.10 - 33764632 Apr 27, 2020 (154)
162 Siberian NC_000020.10 - 33764632 Apr 27, 2020 (154)
163 8.3KJPN NC_000020.10 - 33764632 Apr 27, 2021 (155)
164 14KJPN NC_000020.11 - 35176829 Oct 16, 2022 (156)
165 TopMed NC_000020.11 - 35176829 Apr 27, 2021 (155)
166 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 43235820 (NC_000020.10:33764631:C:C 1627/3708, NC_000020.10:33764631:C:G 2081/3708)
Row 43235821 (NC_000020.10:33764631:C:C 3708/3708, NC_000020.10:33764631:C:A 0/3708)

- Oct 12, 2018 (152)
167 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 43235820 (NC_000020.10:33764631:C:C 1627/3708, NC_000020.10:33764631:C:G 2081/3708)
Row 43235821 (NC_000020.10:33764631:C:C 3708/3708, NC_000020.10:33764631:C:A 0/3708)

- Oct 12, 2018 (152)
168 A Vietnamese Genetic Variation Database NC_000020.10 - 33764632 Jul 13, 2019 (153)
169 ALFA NC_000020.11 - 35176829 Apr 27, 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)
rs1801551 Dec 16, 2002 (110)
rs3171379 Jul 03, 2002 (106)
rs59781386 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
78107999, 41057450, ss1364648847, ss1638714452, ss1681708485, ss1693967941, ss2744561915, ss2750369331, ss2967074633, ss3889040470, ss5663156455, ss5845653506 NC_000020.10:33764631:C:A NC_000020.11:35176828:C:A (self)
102626182, 13645394642, ss2242497088, ss5308692041, ss5615100247 NC_000020.11:35176828:C:A NC_000020.11:35176828:C:A (self)
ss84262129, ss91689306, ss111936572, ss117534095, ss161000454, ss168083123, ss169515603, ss172055791, ss203878610, ss208764823, ss212019022, ss283369745, ss287453310, ss292645656, ss481940066, ss491808580, ss1698748208 NC_000020.9:33228292:C:G NC_000020.11:35176828:C:G (self)
78107999, 30554393, 119106, 5660067, 1822365, 19263738, 46493350, 655076, 16653903, 298960, 20244715, 41057450, 10964333, 87476126, 9542027, ss228335922, ss237820558, ss243993917, ss481973410, ss482929581, ss485763736, ss491175804, ss535466340, ss566227369, ss662110022, ss713568821, ss778343153, ss783327679, ss784279453, ss832589398, ss833797784, ss994689658, ss1082181529, ss1364648848, ss1429046434, ss1579495128, ss1584122645, ss1638714451, ss1681708484, ss1693967940, ss1711539316, ss1752383937, ss1809487938, ss1938202793, ss2029883351, ss2158447979, ss2629435476, ss2633793936, ss2704138300, ss2744561915, ss2750369331, ss2967074633, ss3018136511, ss3352498973, ss3628383601, ss3631750734, ss3633249835, ss3633963877, ss3634833883, ss3635648982, ss3636527132, ss3637401064, ss3638343689, ss3638343690, ss3640541181, ss3646549256, ss3684816145, ss3743369038, ss3745133780, ss3758604075, ss3772629992, ss3788640612, ss3793533968, ss3798420863, ss3825365462, ss3835658468, ss3841455686, ss3889040470, ss3939315956, ss3984215846, ss3984749391, ss3986084127, ss3986829005, ss5229506819, ss5316005084, ss5624113446, ss5663156455, ss5800074510, ss5800229362, ss5845653505, ss5848547202, ss5958066693, ss5981085454, ss5981317084 NC_000020.10:33764631:C:G NC_000020.11:35176828:C:G (self)
102626182, 2111950, 123100061, 362647720, 13645394642, ss2242497088, ss3028774710, ss3651015496, ss3706886434, ss3821771933, ss3846968163, ss5087538775, ss5142018990, ss5237251842, ss5308692040, ss5500979797, ss5615100247, ss5789262957, ss5818020725, ss5853128860 NC_000020.11:35176828:C:G NC_000020.11:35176828:C:G (self)
ss11675, ss1387744, ss1526226, ss2982094, ss3236957, ss4365402, ss4394780, ss4416639, ss16242271, ss41396065, ss52088449, ss65744584, ss76874705, ss96226695, ss135722858, ss156391962, ss168994567, ss174870398 NT_011362.10:3960723:C:G NC_000020.11:35176828:C:G (self)
ss8372705, ss21783805 NT_028392.4:3931399:C:G NC_000020.11:35176828:C:G (self)
ss52083775 NT_028392.5:3960723:C:G NC_000020.11:35176828:C:G (self)
13645394642 NC_000020.11:35176828:C:T NC_000020.11:35176828: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.

6 citations for rs9574
PMID Title Author Year Journal
24744624 The Effects of Endothelial Protein C Receptor Gene Polymorphisms on the Plasma sEPCR Level in Venous Thrombosis Patients. Karabıyık A et al. 2012 Turkish journal of haematology
25541704 Endothelial protein C receptor gene variants not associated with severe malaria in ghanaian children. Schuldt K et al. 2014 PloS one
27215212 Association of common genetic variation in the protein C pathway genes with clinical outcomes in acute respiratory distress syndrome. Sapru A et al. 2016 Critical care (London, England)
28353616 Associations between polymorphisms in coagulation-related genes and venous thromboembolism: A meta-analysis with trial sequential analysis. Jiang J et al. 2017 Medicine
30383853 Genetics of the thrombomodulin-endothelial cell protein C receptor system and the risk of early-onset ischemic stroke. Cole JW et al. 2018 PloS one
31645483 Polymorphisms in endothelial protein C receptor gene and Kawasaki disease susceptibility in a Chinese children. Li Z et al. 2019 Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences
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