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rs587779491

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779491(G;T)
Make rs587779491(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189006373
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779491
ebirs587779491
HLIrs587779491
Exacrs587779491
Varsomers587779491
Maprs587779491
PheGenIrs587779491
hapmaprs587779491
1000 genomesrs587779491
hgdprs587779491
ensemblrs587779491
gopubmedrs587779491
geneviewrs587779491
scholarrs587779491
googlers587779491
pharmgkbrs587779491
gwascentralrs587779491
openSNPrs587779491
23andMers587779491
23andMe allrs587779491
SNP Nexus

SNPshotrs587779491
SNPdbers587779491
MSV3drs587779491
GWAS Ctlgrs587779491
Max Magnitude0
ClinVar
Risk rs587779491(T;T)
Alt rs587779491(T;T)
Reference rs587779491(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.189871099G>T
CLNSRC
CLNACC RCV000087424.1,