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rs786204553

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204553(A;A)
Make rs786204553(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position6614865
GeneTPP1
is asnp
is mentioned by
dbSNPrs786204553
ebirs786204553
HLIrs786204553
Exacrs786204553
Varsomers786204553
Maprs786204553
PheGenIrs786204553
hapmaprs786204553
1000 genomesrs786204553
hgdprs786204553
ensemblrs786204553
gopubmedrs786204553
geneviewrs786204553
scholarrs786204553
googlers786204553
pharmgkbrs786204553
gwascentralrs786204553
openSNPrs786204553
23andMers786204553
23andMe allrs786204553
SNP Nexus

SNPshotrs786204553
SNPdbers786204553
MSV3drs786204553
GWAS Ctlgrs786204553
Max Magnitude0
ClinVar
Risk rs786204553(A;A)
Alt rs786204553(A;A)
Reference rs786204553(G;G)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 2
Variation info
Gene TPP1
CLNDBN Ceroid lipofuscinosis neuronal 2
Reversed 1
HGVS NC_000011.9:g.6636096C>T
CLNSRC
CLNACC RCV000169269.1,