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rs587779442

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779442(C;C)
Make rs587779442(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188999340
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779442
ebirs587779442
HLIrs587779442
Exacrs587779442
Varsomers587779442
Maprs587779442
PheGenIrs587779442
hapmaprs587779442
1000 genomesrs587779442
hgdprs587779442
ensemblrs587779442
gopubmedrs587779442
geneviewrs587779442
scholarrs587779442
googlers587779442
pharmgkbrs587779442
gwascentralrs587779442
openSNPrs587779442
23andMers587779442
23andMe allrs587779442
SNP Nexus

SNPshotrs587779442
SNPdbers587779442
MSV3drs587779442
GWAS Ctlgrs587779442
Max Magnitude0
ClinVar
Risk rs587779442(C;C)
Alt rs587779442(C;C)
Reference rs587779442(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.189864066G>C
CLNSRC
CLNACC RCV000087366.1,