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rs1057516579

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516579(-;C)
Make rs1057516579(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position6614576
GeneTPP1
is asnp
is mentioned by
dbSNPrs1057516579
dbSNP (old)rs1057516579
ClinGenrs1057516579
ebirs1057516579
HLIrs1057516579
Exacrs1057516579
Gnomadrs1057516579
Varsomers1057516579
Maprs1057516579
PheGenIrs1057516579
Biobankrs1057516579
1000 genomesrs1057516579
hgdprs1057516579
ensemblrs1057516579
gopubmedrs1057516579
geneviewrs1057516579
scholarrs1057516579
googlers1057516579
pharmgkbrs1057516579
gwascentralrs1057516579
openSNPrs1057516579
23andMers1057516579
23andMe allrs1057516579
SNPshotrs1057516579
SNPdbers1057516579
MSV3drs1057516579
GWAS Ctlgrs1057516579
Max Magnitude0
ClinVar
Risk rs1057516579(C;C)
Alt rs1057516579(C;C)
Reference Rs1057516579(-;-)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 2
Variation info
Gene TPP1
CLNDBN Ceroid lipofuscinosis neuronal 2
Reversed 1
HGVS NC_000011.9:g.6635808dupG
CLNSRC
CLNACC RCV000410236.1,