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rs587779577

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779577(C;C)
Make rs587779577(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188999321
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779577
ebirs587779577
HLIrs587779577
Exacrs587779577
Varsomers587779577
Maprs587779577
PheGenIrs587779577
hapmaprs587779577
1000 genomesrs587779577
hgdprs587779577
ensemblrs587779577
gopubmedrs587779577
geneviewrs587779577
scholarrs587779577
googlers587779577
pharmgkbrs587779577
gwascentralrs587779577
openSNPrs587779577
23andMers587779577
23andMe allrs587779577
SNP Nexus

SNPshotrs587779577
SNPdbers587779577
MSV3drs587779577
GWAS Ctlgrs587779577
Max Magnitude0
ClinVar
Risk rs587779577(C;C)
Alt rs587779577(C;C)
Reference rs587779577(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.189864047G>C
CLNSRC
CLNACC RCV000087526.1,