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rs121908204

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908204(A;A)
Make rs121908204(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position6617626
GeneTPP1
is asnp
is mentioned by
dbSNPrs121908204
dbSNP (old)rs121908204
ClinGenrs121908204
ebirs121908204
HLIrs121908204
Exacrs121908204
Gnomadrs121908204
Varsomers121908204
Maprs121908204
PheGenIrs121908204
Biobankrs121908204
1000 genomesrs121908204
hgdprs121908204
ensemblrs121908204
gopubmedrs121908204
geneviewrs121908204
scholarrs121908204
googlers121908204
pharmgkbrs121908204
gwascentralrs121908204
openSNPrs121908204
23andMers121908204
23andMe allrs121908204
SNPshotrs121908204
SNPdbers121908204
MSV3drs121908204
GWAS Ctlgrs121908204
Max Magnitude0
ClinVar
Risk rs121908204(A;A) rs121908204(T;T)
Alt rs121908204(A;A) rs121908204(T;T)
Reference Rs121908204(G;G)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 2 not provided
Variation info
Gene TPP1
CLNDBN Ceroid lipofuscinosis neuronal 2 not provided
Reversed 1
HGVS NC_000011.9:g.6638857C>T
CLNSRC UniProtKB (protein) UniProtKB (variants)
CLNACC RCV000059628.1, RCV000494361.1,