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rs587777192

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777192(A;A)
Make rs587777192(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position196239597
GenePCYT1A
is asnp
is mentioned by
dbSNPrs587777192
ebirs587777192
HLIrs587777192
Exacrs587777192
Varsomers587777192
Maprs587777192
PheGenIrs587777192
hapmaprs587777192
1000 genomesrs587777192
hgdprs587777192
ensemblrs587777192
gopubmedrs587777192
geneviewrs587777192
scholarrs587777192
googlers587777192
pharmgkbrs587777192
gwascentralrs587777192
openSNPrs587777192
23andMers587777192
23andMe allrs587777192
SNP Nexus

SNPshotrs587777192
SNPdbers587777192
MSV3drs587777192
GWAS Ctlgrs587777192
Max Magnitude0
ClinVar
Risk rs587777192(A;A)
Alt rs587777192(A;A)
Reference rs587777192(G;G)
Significance Pathogenic
Disease Spondylometaphyseal dysplasia with cone-rod dystrophy
Variation info
Gene PCYT1A
CLNDBN Spondylometaphyseal dysplasia with cone-rod dystrophy
Reversed 0
HGVS NC_000003.11:g.195966468G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000087317.5,