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rs587777196

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587777196(-;-)
Make rs587777196(-;C)
Make rs587777196(C;C)
ReferenceGRCh38 38.1/142
Chromosome3
Position196238824
GenePCYT1A
is asnp
is mentioned by
dbSNPrs587777196
ebirs587777196
HLIrs587777196
Exacrs587777196
Varsomers587777196
Maprs587777196
PheGenIrs587777196
hapmaprs587777196
1000 genomesrs587777196
hgdprs587777196
ensemblrs587777196
gopubmedrs587777196
geneviewrs587777196
scholarrs587777196
googlers587777196
pharmgkbrs587777196
gwascentralrs587777196
openSNPrs587777196
23andMers587777196
23andMe allrs587777196
SNP Nexus

SNPshotrs587777196
SNPdbers587777196
MSV3drs587777196
GWAS Ctlgrs587777196
Max Magnitude0
ClinVar
Risk rs587777196(C;C)
Alt rs587777196(C;C)
Reference rs587777196(;)
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.195965695dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000087322.3,