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rs778232650

From SNPedia

Orientationplus
Geno Mag Summary
(CTCCATAG;CTCCATAG) 0 common in clinvar
Make rs778232650(-;-)
Make rs778232650(-;CTCCATAG)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position6616411
GeneTPP1
is asnp
is mentioned by
dbSNPrs778232650
ebirs778232650
HLIrs778232650
Exacrs778232650
Varsomers778232650
Maprs778232650
PheGenIrs778232650
hapmaprs778232650
1000 genomesrs778232650
hgdprs778232650
ensemblrs778232650
gopubmedrs778232650
geneviewrs778232650
scholarrs778232650
googlers778232650
pharmgkbrs778232650
gwascentralrs778232650
openSNPrs778232650
23andMers778232650
23andMe allrs778232650
SNP Nexus

SNPshotrs778232650
SNPdbers778232650
MSV3drs778232650
GWAS Ctlgrs778232650
Max Magnitude0
ClinVar
Risk rs778232650(;)
Alt rs778232650(;)
Reference rs778232650(CTCCATAG;CTCCATAG)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 2
Variation info
Gene TPP1
CLNDBN Ceroid lipofuscinosis neuronal 2
Reversed 0
HGVS NC_000011.9:g.6637642_6637649delCTCCATAG
CLNSRC Counsyl
CLNACC RCV000169200.1,