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rs587779503

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587779503(C;C)
Make rs587779503(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189006261
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779503
ebirs587779503
HLIrs587779503
Exacrs587779503
Varsomers587779503
Maprs587779503
PheGenIrs587779503
hapmaprs587779503
1000 genomesrs587779503
hgdprs587779503
ensemblrs587779503
gopubmedrs587779503
geneviewrs587779503
scholarrs587779503
googlers587779503
pharmgkbrs587779503
gwascentralrs587779503
openSNPrs587779503
23andMers587779503
23andMe allrs587779503
SNP Nexus

SNPshotrs587779503
SNPdbers587779503
MSV3drs587779503
GWAS Ctlgrs587779503
Max Magnitude0
ClinVar
Risk rs587779503(C,G;C,G)
Alt rs587779503(C,G;C,G)
Reference rs587779503(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.189870987T>C; NC_000002.11:g.189870987T>G
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087438.1, RCV000087658.1,