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

rs786204753

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204753(A;A)
Make rs786204753(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position6615217
GeneTPP1
is asnp
is mentioned by
dbSNPrs786204753
ebirs786204753
HLIrs786204753
Exacrs786204753
Varsomers786204753
Maprs786204753
PheGenIrs786204753
hapmaprs786204753
1000 genomesrs786204753
hgdprs786204753
ensemblrs786204753
gopubmedrs786204753
geneviewrs786204753
scholarrs786204753
googlers786204753
pharmgkbrs786204753
gwascentralrs786204753
openSNPrs786204753
23andMers786204753
23andMe allrs786204753
SNP Nexus

SNPshotrs786204753
SNPdbers786204753
MSV3drs786204753
GWAS Ctlgrs786204753
Max Magnitude0
ClinVar
Risk rs786204753(A;A)
Alt rs786204753(A;A)
Reference rs786204753(G;G)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 2 not provided
Variation info
Gene TPP1
CLNDBN Ceroid lipofuscinosis neuronal 2 not provided
Reversed 1
HGVS NC_000011.9:g.6636448C>T
CLNSRC
CLNACC RCV000169608.1, RCV000189791.1,