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rs587779440

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779440(G;T)
Make rs587779440(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188991670
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779440
ebirs587779440
HLIrs587779440
Exacrs587779440
Varsomers587779440
Maprs587779440
PheGenIrs587779440
hapmaprs587779440
1000 genomesrs587779440
hgdprs587779440
ensemblrs587779440
gopubmedrs587779440
geneviewrs587779440
scholarrs587779440
googlers587779440
pharmgkbrs587779440
gwascentralrs587779440
openSNPrs587779440
23andMers587779440
23andMe allrs587779440
SNP Nexus

SNPshotrs587779440
SNPdbers587779440
MSV3drs587779440
GWAS Ctlgrs587779440
Max Magnitude0
ClinVar
Risk rs587779440(A,T;A,T)
Alt rs587779440(A,T;A,T)
Reference rs587779440(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.189856396G>A; NC_000002.11:g.189856396G>T
CLNSRC
CLNACC RCV000087380.1, RCV000087364.1,