Have questions? Visit https://www.reddit.com/r/SNPedia

rs587777190

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777190(C;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position196247405
GenePCYT1A
is asnp
is mentioned by
dbSNPrs587777190
ebirs587777190
HLIrs587777190
Exacrs587777190
Varsomers587777190
Maprs587777190
PheGenIrs587777190
hapmaprs587777190
1000 genomesrs587777190
hgdprs587777190
ensemblrs587777190
gopubmedrs587777190
geneviewrs587777190
scholarrs587777190
googlers587777190
pharmgkbrs587777190
gwascentralrs587777190
openSNPrs587777190
23andMers587777190
23andMe allrs587777190
SNP Nexus

SNPshotrs587777190
SNPdbers587777190
MSV3drs587777190
GWAS Ctlgrs587777190
Max Magnitude0
ClinVar
Risk rs587777190(G;G)
Alt rs587777190(G;G)
Reference rs587777190(C;C)
Significance Pathogenic
Disease Spondylometaphyseal dysplasia with cone-rod dystrophy
Variation info
Gene PCYT1A
CLNDBN Spondylometaphyseal dysplasia with cone-rod dystrophy
Reversed 1
HGVS NC_000003.11:g.195974276G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000087315.5,