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rs587779666

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779666(G;T)
Make rs587779666(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189007519
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779666
ebirs587779666
HLIrs587779666
Exacrs587779666
Varsomers587779666
Maprs587779666
PheGenIrs587779666
hapmaprs587779666
1000 genomesrs587779666
hgdprs587779666
ensemblrs587779666
gopubmedrs587779666
geneviewrs587779666
scholarrs587779666
googlers587779666
pharmgkbrs587779666
gwascentralrs587779666
openSNPrs587779666
23andMers587779666
23andMe allrs587779666
SNP Nexus

SNPshotrs587779666
SNPdbers587779666
MSV3drs587779666
GWAS Ctlgrs587779666
Max Magnitude0
ClinVar
Risk rs587779666(T;T)
Alt rs587779666(T;T)
Reference rs587779666(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.189872245G>T
CLNSRC
CLNACC RCV000087654.1,