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rs794727955

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727955(-;-)
Make rs794727955(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position40074172
GenePPT1
is asnp
is mentioned by
dbSNPrs794727955
ebirs794727955
HLIrs794727955
Exacrs794727955
Varsomers794727955
Maprs794727955
PheGenIrs794727955
hapmaprs794727955
1000 genomesrs794727955
hgdprs794727955
ensemblrs794727955
gopubmedrs794727955
geneviewrs794727955
scholarrs794727955
googlers794727955
pharmgkbrs794727955
gwascentralrs794727955
openSNPrs794727955
23andMers794727955
23andMe allrs794727955
SNP Nexus

SNPshotrs794727955
SNPdbers794727955
MSV3drs794727955
GWAS Ctlgrs794727955
Max Magnitude0
ClinVar
Risk rs794727955(;)
Alt rs794727955(;)
Reference rs794727955(G;G)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40539844delC
CLNSRC
CLNACC RCV000180489.1,