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rs587779652

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779652(A;A)
Make rs587779652(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188991723
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779652
ebirs587779652
HLIrs587779652
Exacrs587779652
Varsomers587779652
Maprs587779652
PheGenIrs587779652
hapmaprs587779652
1000 genomesrs587779652
hgdprs587779652
ensemblrs587779652
gopubmedrs587779652
geneviewrs587779652
scholarrs587779652
googlers587779652
pharmgkbrs587779652
gwascentralrs587779652
openSNPrs587779652
23andMers587779652
23andMe allrs587779652
SNP Nexus

SNPshotrs587779652
SNPdbers587779652
MSV3drs587779652
GWAS Ctlgrs587779652
Max Magnitude0
ClinVar
Risk rs587779652(A;A)
Alt rs587779652(A;A)
Reference rs587779652(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.189856449G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087629.1,