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rs587779457

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779457(G;T)
Make rs587779457(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189003469
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779457
ebirs587779457
HLIrs587779457
Exacrs587779457
Varsomers587779457
Maprs587779457
PheGenIrs587779457
hapmaprs587779457
1000 genomesrs587779457
hgdprs587779457
ensemblrs587779457
gopubmedrs587779457
geneviewrs587779457
scholarrs587779457
googlers587779457
pharmgkbrs587779457
gwascentralrs587779457
openSNPrs587779457
23andMers587779457
23andMe allrs587779457
SNP Nexus

SNPshotrs587779457
SNPdbers587779457
MSV3drs587779457
GWAS Ctlgrs587779457
Max Magnitude0
ClinVar
Risk rs587779457(A,T;A,T)
Alt rs587779457(A,T;A,T)
Reference rs587779457(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.189868195G>A; NC_000002.11:g.189868195G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087647.1, RCV000087386.1,