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rs587779471

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779471(G;T)
Make rs587779471(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189004090
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779471
ebirs587779471
HLIrs587779471
Exacrs587779471
Varsomers587779471
Maprs587779471
PheGenIrs587779471
hapmaprs587779471
1000 genomesrs587779471
hgdprs587779471
ensemblrs587779471
gopubmedrs587779471
geneviewrs587779471
scholarrs587779471
googlers587779471
pharmgkbrs587779471
gwascentralrs587779471
openSNPrs587779471
23andMers587779471
23andMe allrs587779471
SNP Nexus

SNPshotrs587779471
SNPdbers587779471
MSV3drs587779471
GWAS Ctlgrs587779471
Max Magnitude0
ClinVar
Risk rs587779471(A,T;A,T)
Alt rs587779471(A,T;A,T)
Reference rs587779471(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.189868816G>A; NC_000002.11:g.189868816G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087554.1, RCV000087402.1,