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rs752164603

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs752164603(A;A)
Make rs752164603(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position6617022
GeneTPP1
is asnp
is mentioned by
dbSNPrs752164603
dbSNP (classic)rs752164603
ClinGenrs752164603
ebirs752164603
HLIrs752164603
Exacrs752164603
Gnomadrs752164603
Varsomers752164603
LitVarrs752164603
Maprs752164603
PheGenIrs752164603
Biobankrs752164603
1000 genomesrs752164603
hgdprs752164603
ensemblrs752164603
geneviewrs752164603
scholarrs752164603
googlers752164603
pharmgkbrs752164603
gwascentralrs752164603
openSNPrs752164603
23andMers752164603
SNPshotrs752164603
SNPdbers752164603
MSV3drs752164603
GWAS Ctlgrs752164603
Max Magnitude0
ClinVar
Risk rs752164603(A;A)
Alt rs752164603(A;A)
Reference Rs752164603(G;G)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 2
Variation info
Gene TPP1
CLNDBN Ceroid lipofuscinosis neuronal 2
Reversed 0
HGVS NC_000011.9:g.6638253G>A
CLNSRC
CLNACC RCV000411357.1,