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rs587779532

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587779532(C;C)
Make rs587779532(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189005463
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779532
ebirs587779532
HLIrs587779532
Exacrs587779532
Varsomers587779532
Maprs587779532
PheGenIrs587779532
hapmaprs587779532
1000 genomesrs587779532
hgdprs587779532
ensemblrs587779532
gopubmedrs587779532
geneviewrs587779532
scholarrs587779532
googlers587779532
pharmgkbrs587779532
gwascentralrs587779532
openSNPrs587779532
23andMers587779532
23andMe allrs587779532
SNP Nexus

SNPshotrs587779532
SNPdbers587779532
MSV3drs587779532
GWAS Ctlgrs587779532
Max Magnitude0
ClinVar
Risk rs587779532(C;C)
Alt rs587779532(C;C)
Reference rs587779532(T;T)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189870189T>C
CLNSRC
CLNACC RCV000087472.1,