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rs587779423

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587779423(C;C)
Make rs587779423(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188991728
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779423
ebirs587779423
HLIrs587779423
Exacrs587779423
Varsomers587779423
Maprs587779423
PheGenIrs587779423
hapmaprs587779423
1000 genomesrs587779423
hgdprs587779423
ensemblrs587779423
gopubmedrs587779423
geneviewrs587779423
scholarrs587779423
googlers587779423
pharmgkbrs587779423
gwascentralrs587779423
openSNPrs587779423
23andMers587779423
23andMe allrs587779423
SNP Nexus

SNPshotrs587779423
SNPdbers587779423
MSV3drs587779423
GWAS Ctlgrs587779423
Max Magnitude0
ClinVar
Risk rs587779423(A,C;A,C)
Alt rs587779423(A,C;A,C)
Reference rs587779423(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.189856454T>A; NC_000002.11:g.189856454T>C
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087479.1, RCV000087346.1,