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rs587779422

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779422(A;A)
Make rs587779422(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188991727
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779422
ebirs587779422
HLIrs587779422
Exacrs587779422
Varsomers587779422
Maprs587779422
PheGenIrs587779422
hapmaprs587779422
1000 genomesrs587779422
hgdprs587779422
ensemblrs587779422
gopubmedrs587779422
geneviewrs587779422
scholarrs587779422
googlers587779422
pharmgkbrs587779422
gwascentralrs587779422
openSNPrs587779422
23andMers587779422
23andMe allrs587779422
SNP Nexus

SNPshotrs587779422
SNPdbers587779422
MSV3drs587779422
GWAS Ctlgrs587779422
Max Magnitude0
ClinVar
Risk rs587779422(A;A)
Alt rs587779422(A;A)
Reference rs587779422(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.189856453G>A
CLNSRC
CLNACC RCV000087345.1,