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rs587779651

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779651(C;C)
Make rs587779651(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189006408
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779651
ebirs587779651
HLIrs587779651
Exacrs587779651
Varsomers587779651
Maprs587779651
PheGenIrs587779651
hapmaprs587779651
1000 genomesrs587779651
hgdprs587779651
ensemblrs587779651
gopubmedrs587779651
geneviewrs587779651
scholarrs587779651
googlers587779651
pharmgkbrs587779651
gwascentralrs587779651
openSNPrs587779651
23andMers587779651
23andMe allrs587779651
SNP Nexus

SNPshotrs587779651
SNPdbers587779651
MSV3drs587779651
GWAS Ctlgrs587779651
Max Magnitude0
ClinVar
Risk rs587779651(C;C)
Alt rs587779651(C;C)
Reference rs587779651(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.189871134G>C
CLNSRC
CLNACC RCV000087627.1,