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rs587779512

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779512(A;A)
Make rs587779512(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188999367
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779512
ebirs587779512
HLIrs587779512
Exacrs587779512
Varsomers587779512
Maprs587779512
PheGenIrs587779512
hapmaprs587779512
1000 genomesrs587779512
hgdprs587779512
ensemblrs587779512
gopubmedrs587779512
geneviewrs587779512
scholarrs587779512
googlers587779512
pharmgkbrs587779512
gwascentralrs587779512
openSNPrs587779512
23andMers587779512
23andMe allrs587779512
SNP Nexus

SNPshotrs587779512
SNPdbers587779512
MSV3drs587779512
GWAS Ctlgrs587779512
Max Magnitude0
ClinVar
Risk rs587779512(A,T;A,T)
Alt rs587779512(A,T;A,T)
Reference rs587779512(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189864093G>A; NC_000002.11:g.189864093G>T
CLNSRC
CLNACC RCV000087449.1, RCV000087600.1,