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rs587779630

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779630(A;A)
Make rs587779630(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189001406
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779630
ebirs587779630
HLIrs587779630
Exacrs587779630
Varsomers587779630
Maprs587779630
PheGenIrs587779630
hapmaprs587779630
1000 genomesrs587779630
hgdprs587779630
ensemblrs587779630
gopubmedrs587779630
geneviewrs587779630
scholarrs587779630
googlers587779630
pharmgkbrs587779630
gwascentralrs587779630
openSNPrs587779630
23andMers587779630
23andMe allrs587779630
SNP Nexus

SNPshotrs587779630
SNPdbers587779630
MSV3drs587779630
GWAS Ctlgrs587779630
Max Magnitude0
ClinVar
Risk rs587779630(A;A)
Alt rs587779630(A;A)
Reference rs587779630(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.189866132G>A
CLNSRC
CLNACC RCV000087597.1,