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rs1057516945

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516945(G;G)
Make rs1057516945(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position6616973
GeneTPP1
is asnp
is mentioned by
dbSNPrs1057516945
dbSNP (old)rs1057516945
ClinGenrs1057516945
ebirs1057516945
HLIrs1057516945
Exacrs1057516945
Gnomadrs1057516945
Varsomers1057516945
LitVarrs1057516945
Maprs1057516945
PheGenIrs1057516945
Biobankrs1057516945
1000 genomesrs1057516945
hgdprs1057516945
ensemblrs1057516945
gopubmedrs1057516945
geneviewrs1057516945
scholarrs1057516945
googlers1057516945
pharmgkbrs1057516945
gwascentralrs1057516945
openSNPrs1057516945
23andMers1057516945
23andMe allrs1057516945
SNPshotrs1057516945
SNPdbers1057516945
MSV3drs1057516945
GWAS Ctlgrs1057516945
Max Magnitude0
ClinVar
Risk rs1057516945(G;G)
Alt rs1057516945(G;G)
Reference Rs1057516945(T;T)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 2
Variation info
Gene TPP1
CLNDBN Ceroid lipofuscinosis neuronal 2
Reversed 1
HGVS NC_000011.9:g.6638204A>C
CLNSRC
CLNACC RCV000411672.1,