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rs1057516511

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516511(A;A)
Make rs1057516511(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position6614687
GeneTPP1
is asnp
is mentioned by
dbSNPrs1057516511
dbSNP (classic)rs1057516511
ClinGenrs1057516511
ebirs1057516511
HLIrs1057516511
Exacrs1057516511
Gnomadrs1057516511
Varsomers1057516511
LitVarrs1057516511
Maprs1057516511
PheGenIrs1057516511
Biobankrs1057516511
1000 genomesrs1057516511
hgdprs1057516511
ensemblrs1057516511
geneviewrs1057516511
scholarrs1057516511
googlers1057516511
pharmgkbrs1057516511
gwascentralrs1057516511
openSNPrs1057516511
23andMers1057516511
23andMe allrs1057516511
SNPshotrs1057516511
SNPdbers1057516511
MSV3drs1057516511
GWAS Ctlgrs1057516511
Max Magnitude0
ClinVar
Risk rs1057516511(A;A)
Alt rs1057516511(A;A)
Reference Rs1057516511(G;G)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 2
Variation info
Gene TPP1
CLNDBN Ceroid lipofuscinosis neuronal 2
Reversed 1
HGVS NC_000011.9:g.6635918C>T
CLNSRC
CLNACC RCV000409021.1,