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rs587779595

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779595(A;A)
Make rs587779595(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189005351
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779595
ebirs587779595
HLIrs587779595
Exacrs587779595
Varsomers587779595
Maprs587779595
PheGenIrs587779595
hapmaprs587779595
1000 genomesrs587779595
hgdprs587779595
ensemblrs587779595
gopubmedrs587779595
geneviewrs587779595
scholarrs587779595
googlers587779595
pharmgkbrs587779595
gwascentralrs587779595
openSNPrs587779595
23andMers587779595
23andMe allrs587779595
SNP Nexus

SNPshotrs587779595
SNPdbers587779595
MSV3drs587779595
GWAS Ctlgrs587779595
Max Magnitude0
ClinVar
Risk rs587779595(A;A)
Alt rs587779595(A;A)
Reference rs587779595(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.189870077G>A
CLNSRC
CLNACC RCV000087547.1,