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rs587779435

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779435(C;C)
Make rs587779435(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188997745
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779435
ebirs587779435
HLIrs587779435
Exacrs587779435
Varsomers587779435
Maprs587779435
PheGenIrs587779435
hapmaprs587779435
1000 genomesrs587779435
hgdprs587779435
ensemblrs587779435
gopubmedrs587779435
geneviewrs587779435
scholarrs587779435
googlers587779435
pharmgkbrs587779435
gwascentralrs587779435
openSNPrs587779435
23andMers587779435
23andMe allrs587779435
SNP Nexus

SNPshotrs587779435
SNPdbers587779435
MSV3drs587779435
GWAS Ctlgrs587779435
Max Magnitude0
ClinVar
Risk rs587779435(A,C;A,C)
Alt rs587779435(A,C;A,C)
Reference rs587779435(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.189862471G>A; NC_000002.11:g.189862471G>C
CLNSRC
CLNACC RCV000087657.1, RCV000087359.1,