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rs587777193

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777193(-;-)
Make rs587777193(-;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position196238802
GenePCYT1A
is asnp
is mentioned by
dbSNPrs587777193
ebirs587777193
HLIrs587777193
Exacrs587777193
Varsomers587777193
Maprs587777193
PheGenIrs587777193
hapmaprs587777193
1000 genomesrs587777193
hgdprs587777193
ensemblrs587777193
gopubmedrs587777193
geneviewrs587777193
scholarrs587777193
googlers587777193
pharmgkbrs587777193
gwascentralrs587777193
openSNPrs587777193
23andMers587777193
23andMe allrs587777193
SNP Nexus

SNPshotrs587777193
SNPdbers587777193
MSV3drs587777193
GWAS Ctlgrs587777193
Max Magnitude0
ClinVar
Risk rs587777193(;)
Alt rs587777193(;)
Reference rs587777193(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.195965673delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000087318.4,