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rs553522118

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs553522118(A;A)
Make rs553522118(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position6617338
GeneTPP1
is asnp
is mentioned by
dbSNPrs553522118
ebirs553522118
HLIrs553522118
Exacrs553522118
Varsomers553522118
Maprs553522118
PheGenIrs553522118
hapmaprs553522118
1000 genomesrs553522118
hgdprs553522118
ensemblrs553522118
gopubmedrs553522118
geneviewrs553522118
scholarrs553522118
googlers553522118
pharmgkbrs553522118
gwascentralrs553522118
openSNPrs553522118
23andMers553522118
23andMe allrs553522118
SNP Nexus

SNPshotrs553522118
SNPdbers553522118
MSV3drs553522118
GWAS Ctlgrs553522118
Max Magnitude0
ClinVar
Risk rs553522118(A;A)
Alt rs553522118(A;A)
Reference Rs553522118(G;G)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 2
Variation info
Gene TPP1
CLNDBN Ceroid lipofuscinosis neuronal 2
Reversed 0
HGVS NC_000011.9:g.6638569G>T
CLNSRC Institute of Human Genetics
CLNACC RCV000234824.1,