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rs587779460

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779460(A;A)
Make rs587779460(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188999376
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779460
ebirs587779460
HLIrs587779460
Exacrs587779460
Varsomers587779460
Maprs587779460
PheGenIrs587779460
hapmaprs587779460
1000 genomesrs587779460
hgdprs587779460
ensemblrs587779460
gopubmedrs587779460
geneviewrs587779460
scholarrs587779460
googlers587779460
pharmgkbrs587779460
gwascentralrs587779460
openSNPrs587779460
23andMers587779460
23andMe allrs587779460
SNP Nexus

SNPshotrs587779460
SNPdbers587779460
MSV3drs587779460
GWAS Ctlgrs587779460
Max Magnitude0
ClinVar
Risk rs587779460(A;A)
Alt rs587779460(A;A)
Reference rs587779460(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.189864102G>A
CLNSRC
CLNACC RCV000087389.1,