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rs587777195

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777195(A;G)
Make rs587777195(G;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position196242085
GenePCYT1A
is asnp
is mentioned by
dbSNPrs587777195
ebirs587777195
HLIrs587777195
Exacrs587777195
Varsomers587777195
Maprs587777195
PheGenIrs587777195
hapmaprs587777195
1000 genomesrs587777195
hgdprs587777195
ensemblrs587777195
gopubmedrs587777195
geneviewrs587777195
scholarrs587777195
googlers587777195
pharmgkbrs587777195
gwascentralrs587777195
openSNPrs587777195
23andMers587777195
23andMe allrs587777195
SNP Nexus

SNPshotrs587777195
SNPdbers587777195
MSV3drs587777195
GWAS Ctlgrs587777195
Max Magnitude0
ClinVar
Risk rs587777195(A,G;A,G)
Alt rs587777195(A,G;A,G)
Reference rs587777195(T;T)
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.195968956A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000087321.5,