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rs587779464

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779464(G;T)
Make rs587779464(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188990317
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779464
ebirs587779464
HLIrs587779464
Exacrs587779464
Varsomers587779464
Maprs587779464
PheGenIrs587779464
hapmaprs587779464
1000 genomesrs587779464
hgdprs587779464
ensemblrs587779464
gopubmedrs587779464
geneviewrs587779464
scholarrs587779464
googlers587779464
pharmgkbrs587779464
gwascentralrs587779464
openSNPrs587779464
23andMers587779464
23andMe allrs587779464
SNP Nexus

SNPshotrs587779464
SNPdbers587779464
MSV3drs587779464
GWAS Ctlgrs587779464
Max Magnitude0
ClinVar
Risk rs587779464(A,T;A,T)
Alt rs587779464(A,T;A,T)
Reference rs587779464(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.189855043G>A; NC_000002.11:g.189855043G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087501.1, RCV000087393.1,