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rs1060502179

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060502179(G;G)
Make rs1060502179(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position6618823
GeneTPP1
is asnp
is mentioned by
dbSNPrs1060502179
dbSNP (old)rs1060502179
ClinGenrs1060502179
ebirs1060502179
HLIrs1060502179
Exacrs1060502179
Gnomadrs1060502179
Varsomers1060502179
Maprs1060502179
PheGenIrs1060502179
Biobankrs1060502179
1000 genomesrs1060502179
hgdprs1060502179
ensemblrs1060502179
gopubmedrs1060502179
geneviewrs1060502179
scholarrs1060502179
googlers1060502179
pharmgkbrs1060502179
gwascentralrs1060502179
openSNPrs1060502179
23andMers1060502179
23andMe allrs1060502179
SNPshotrs1060502179
SNPdbers1060502179
MSV3drs1060502179
GWAS Ctlgrs1060502179
Max Magnitude0
ClinVar
Risk rs1060502179(G;G)
Alt rs1060502179(G;G)
Reference Rs1060502179(T;T)
Significance Probable-Pathogenic
Disease Neuronal ceroid lipofuscinosis
Variation info
Gene TPP1
CLNDBN Neuronal ceroid lipofuscinosis
Reversed 1
HGVS NC_000011.9:g.6640054A>C
CLNSRC
CLNACC RCV000465968.1,