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rs1057517313

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517313(-;-)
Make rs1057517313(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position6616728
GeneTPP1
is asnp
is mentioned by
dbSNPrs1057517313
dbSNP (old)rs1057517313
ClinGenrs1057517313
ebirs1057517313
HLIrs1057517313
Exacrs1057517313
Gnomadrs1057517313
Varsomers1057517313
Maprs1057517313
PheGenIrs1057517313
Biobankrs1057517313
1000 genomesrs1057517313
hgdprs1057517313
ensemblrs1057517313
gopubmedrs1057517313
geneviewrs1057517313
scholarrs1057517313
googlers1057517313
pharmgkbrs1057517313
gwascentralrs1057517313
openSNPrs1057517313
23andMers1057517313
23andMe allrs1057517313
SNPshotrs1057517313
SNPdbers1057517313
MSV3drs1057517313
GWAS Ctlgrs1057517313
Max Magnitude0
ClinVar
Risk rs1057517313(-;-)
Alt rs1057517313(-;-)
Reference Rs1057517313(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.6637959delG
CLNSRC
CLNACC RCV000410935.1,