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rs540053239

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs540053239(C;G)
Make rs540053239(G;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position196241987
GenePCYT1A
is asnp
is mentioned by
dbSNPrs540053239
ebirs540053239
HLIrs540053239
Exacrs540053239
Varsomers540053239
Maprs540053239
PheGenIrs540053239
hapmaprs540053239
1000 genomesrs540053239
hgdprs540053239
ensemblrs540053239
gopubmedrs540053239
geneviewrs540053239
scholarrs540053239
googlers540053239
pharmgkbrs540053239
gwascentralrs540053239
openSNPrs540053239
23andMers540053239
23andMe allrs540053239
SNP Nexus

SNPshotrs540053239
SNPdbers540053239
MSV3drs540053239
GWAS Ctlgrs540053239
Max Magnitude0
ClinVar
Risk rs540053239(G,T;G,T)
Alt rs540053239(G,T;G,T)
Reference rs540053239(C;C)
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.195968858C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000087319.5,