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rs587779696

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779696(A;A)
Make rs587779696(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188993406
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779696
ebirs587779696
HLIrs587779696
Exacrs587779696
Varsomers587779696
Maprs587779696
PheGenIrs587779696
hapmaprs587779696
1000 genomesrs587779696
hgdprs587779696
ensemblrs587779696
gopubmedrs587779696
geneviewrs587779696
scholarrs587779696
googlers587779696
pharmgkbrs587779696
gwascentralrs587779696
openSNPrs587779696
23andMers587779696
23andMe allrs587779696
SNP Nexus

SNPshotrs587779696
SNPdbers587779696
MSV3drs587779696
GWAS Ctlgrs587779696
Max Magnitude0
ClinVar
Risk rs587779696(A;A)
Alt rs587779696(A;A)
Reference rs587779696(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.189858132G>A
CLNSRC
CLNACC RCV000087694.1,