Have questions? Visit https://www.reddit.com/r/SNPedia

rs587779643

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779643(A;A)
Make rs587779643(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188998718
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779643
ebirs587779643
HLIrs587779643
Exacrs587779643
Varsomers587779643
Maprs587779643
PheGenIrs587779643
hapmaprs587779643
1000 genomesrs587779643
hgdprs587779643
ensemblrs587779643
gopubmedrs587779643
geneviewrs587779643
scholarrs587779643
googlers587779643
pharmgkbrs587779643
gwascentralrs587779643
openSNPrs587779643
23andMers587779643
23andMe allrs587779643
SNP Nexus

SNPshotrs587779643
SNPdbers587779643
MSV3drs587779643
GWAS Ctlgrs587779643
Max Magnitude0
ClinVar
Risk rs587779643(A,T;A,T)
Alt rs587779643(A,T;A,T)
Reference rs587779643(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.189863444G>A; NC_000002.11:g.189863444G>T
CLNSRC
CLNACC RCV000087614.1, RCV000087729.1,