Have questions? Visit https://www.reddit.com/r/SNPedia

rs113019349

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113019349(C;G)
Make rs113019349(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position6616004
GeneTPP1
is asnp
is mentioned by
dbSNPrs113019349
dbSNP (old)rs113019349
ClinGenrs113019349
ebirs113019349
HLIrs113019349
Exacrs113019349
Gnomadrs113019349
Varsomers113019349
Maprs113019349
PheGenIrs113019349
Biobankrs113019349
1000 genomesrs113019349
hgdprs113019349
ensemblrs113019349
gopubmedrs113019349
geneviewrs113019349
scholarrs113019349
googlers113019349
pharmgkbrs113019349
gwascentralrs113019349
openSNPrs113019349
23andMers113019349
23andMe allrs113019349
SNPshotrs113019349
SNPdbers113019349
MSV3drs113019349
GWAS Ctlgrs113019349
Max Magnitude0
ClinVar
Risk rs113019349(G;G) rs113019349(T;T)
Alt rs113019349(G;G) rs113019349(T;T)
Reference Rs113019349(C;C)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 2
Variation info
Gene TPP1
CLNDBN Ceroid lipofuscinosis neuronal 2
Reversed 0
HGVS NC_000011.9:g.6637235C>T
CLNSRC
CLNACC RCV000411197.1,