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rs587777194

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777194(C;T)
Make rs587777194(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position196247468
GenePCYT1A
is asnp
is mentioned by
dbSNPrs587777194
ebirs587777194
HLIrs587777194
Exacrs587777194
Varsomers587777194
Maprs587777194
PheGenIrs587777194
hapmaprs587777194
1000 genomesrs587777194
hgdprs587777194
ensemblrs587777194
gopubmedrs587777194
geneviewrs587777194
scholarrs587777194
googlers587777194
pharmgkbrs587777194
gwascentralrs587777194
openSNPrs587777194
23andMers587777194
23andMe allrs587777194
SNP Nexus

SNPshotrs587777194
SNPdbers587777194
MSV3drs587777194
GWAS Ctlgrs587777194
Max Magnitude0
ClinVar
Risk rs587777194(C,T;C,T)
Alt rs587777194(C,T;C,T)
Reference rs587777194(G;G)
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.195974339C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000087320.4,