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rs587779703

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779703(A;A)
Make rs587779703(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189008970
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779703
ebirs587779703
HLIrs587779703
Exacrs587779703
Varsomers587779703
Maprs587779703
PheGenIrs587779703
hapmaprs587779703
1000 genomesrs587779703
hgdprs587779703
ensemblrs587779703
gopubmedrs587779703
geneviewrs587779703
scholarrs587779703
googlers587779703
pharmgkbrs587779703
gwascentralrs587779703
openSNPrs587779703
23andMers587779703
23andMe allrs587779703
SNP Nexus

SNPshotrs587779703
SNPdbers587779703
MSV3drs587779703
GWAS Ctlgrs587779703
Max Magnitude0
ClinVar
Risk rs587779703(A;A)
Alt rs587779703(A;A)
Reference rs587779703(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.189873696G>A
CLNSRC
CLNACC RCV000087705.1,