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rs1057516319

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516319(A;A)
Make rs1057516319(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position6615449
GeneTPP1
is asnp
is mentioned by
dbSNPrs1057516319
dbSNP (old)rs1057516319
ClinGenrs1057516319
ebirs1057516319
HLIrs1057516319
Exacrs1057516319
Gnomadrs1057516319
Varsomers1057516319
LitVarrs1057516319
Maprs1057516319
PheGenIrs1057516319
Biobankrs1057516319
1000 genomesrs1057516319
hgdprs1057516319
ensemblrs1057516319
gopubmedrs1057516319
geneviewrs1057516319
scholarrs1057516319
googlers1057516319
pharmgkbrs1057516319
gwascentralrs1057516319
openSNPrs1057516319
23andMers1057516319
23andMe allrs1057516319
SNPshotrs1057516319
SNPdbers1057516319
MSV3drs1057516319
GWAS Ctlgrs1057516319
Max Magnitude0
ClinVar
Risk rs1057516319(A;A)
Alt rs1057516319(A;A)
Reference Rs1057516319(C;C)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 2
Variation info
Gene TPP1
CLNDBN Ceroid lipofuscinosis neuronal 2
Reversed 1
HGVS NC_000011.9:g.6636680G>T
CLNSRC
CLNACC RCV000411513.1,