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rs119455955

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119455955(C;T)
Make rs119455955(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position6617040
GeneTPP1
is asnp
is mentioned by
dbSNPrs119455955
ebirs119455955
HLIrs119455955
Exacrs119455955
Varsomers119455955
Maprs119455955
PheGenIrs119455955
hapmaprs119455955
1000 genomesrs119455955
hgdprs119455955
ensemblrs119455955
gopubmedrs119455955
geneviewrs119455955
scholarrs119455955
googlers119455955
pharmgkbrs119455955
gwascentralrs119455955
openSNPrs119455955
23andMers119455955
23andMe allrs119455955
SNP Nexus

SNPshotrs119455955
SNPdbers119455955
MSV3drs119455955
GWAS Ctlgrs119455955
Max Magnitude0
OMIM607998
Desc
Variant0003
Relatedalso
ClinVar
Risk rs119455955(T;T)
Alt rs119455955(T;T)
Reference rs119455955(C;C)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 2 not provided Inborn genetic diseases Neuronal ceroid lipofuscinosis
Variation info
Gene TPP1
CLNDBN Ceroid lipofuscinosis neuronal 2 not provided Inborn genetic diseases Neuronal ceroid lipofuscinosis
Reversed 1
HGVS NC_000011.9:g.6638271G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002762.4, RCV000189769.2, RCV000210605.1, RCV000230952.1,