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rs587779528

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779528(A;A)
Make rs587779528(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189010205
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779528
dbSNP (classic)rs587779528
ClinGenrs587779528
ebirs587779528
HLIrs587779528
Exacrs587779528
Gnomadrs587779528
Varsomers587779528
LitVarrs587779528
Maprs587779528
PheGenIrs587779528
Biobankrs587779528
1000 genomesrs587779528
hgdprs587779528
ensemblrs587779528
geneviewrs587779528
scholarrs587779528
googlers587779528
pharmgkbrs587779528
gwascentralrs587779528
openSNPrs587779528
23andMers587779528
SNPshotrs587779528
SNPdbers587779528
MSV3drs587779528
GWAS Ctlgrs587779528
Max Magnitude0
ClinVar
Risk rs587779528(A;A)
Alt rs587779528(A;A)
Reference Rs587779528(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.189874931G>A
CLNSRC
CLNACC RCV000087466.1,