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rs587777189

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777189(A;A)
Make rs587777189(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position196248245
GenePCYT1A
is asnp
is mentioned by
dbSNPrs587777189
ebirs587777189
HLIrs587777189
Exacrs587777189
Varsomers587777189
Maprs587777189
PheGenIrs587777189
hapmaprs587777189
1000 genomesrs587777189
hgdprs587777189
ensemblrs587777189
gopubmedrs587777189
geneviewrs587777189
scholarrs587777189
googlers587777189
pharmgkbrs587777189
gwascentralrs587777189
openSNPrs587777189
23andMers587777189
23andMe allrs587777189
SNP Nexus

SNPshotrs587777189
SNPdbers587777189
MSV3drs587777189
GWAS Ctlgrs587777189
Max Magnitude0
ClinVar
Risk rs587777189(A;A)
Alt rs587777189(A;A)
Reference rs587777189(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.195975116G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000087314.4,