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rs587779691

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779691(A;A)
Make rs587779691(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188997166
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779691
ebirs587779691
HLIrs587779691
Exacrs587779691
Varsomers587779691
Maprs587779691
PheGenIrs587779691
hapmaprs587779691
1000 genomesrs587779691
hgdprs587779691
ensemblrs587779691
gopubmedrs587779691
geneviewrs587779691
scholarrs587779691
googlers587779691
pharmgkbrs587779691
gwascentralrs587779691
openSNPrs587779691
23andMers587779691
23andMe allrs587779691
SNP Nexus

SNPshotrs587779691
SNPdbers587779691
MSV3drs587779691
GWAS Ctlgrs587779691
Max Magnitude0
ClinVar
Risk rs587779691(A;A)
Alt rs587779691(A;A)
Reference rs587779691(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.189861892G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087689.1,