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rs587777191

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777191(C;T)
Make rs587777191(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position196248246
GenePCYT1A
is asnp
is mentioned by
dbSNPrs587777191
ebirs587777191
HLIrs587777191
Exacrs587777191
Varsomers587777191
Maprs587777191
PheGenIrs587777191
hapmaprs587777191
1000 genomesrs587777191
hgdprs587777191
ensemblrs587777191
gopubmedrs587777191
geneviewrs587777191
scholarrs587777191
googlers587777191
pharmgkbrs587777191
gwascentralrs587777191
openSNPrs587777191
23andMers587777191
23andMe allrs587777191
SNP Nexus

SNPshotrs587777191
SNPdbers587777191
MSV3drs587777191
GWAS Ctlgrs587777191
Max Magnitude0
ClinVar
Risk Rs587777191(C;C) rs587777191(T;T)
Alt Rs587777191(C;C) rs587777191(T;T)
Reference Rs587777191(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.195975117C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000087316.4,