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rs864309505

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs864309505(A;C)
Make rs864309505(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position6615220
GeneTPP1
is asnp
is mentioned by
dbSNPrs864309505
ebirs864309505
HLIrs864309505
Exacrs864309505
Varsomers864309505
Maprs864309505
PheGenIrs864309505
hapmaprs864309505
1000 genomesrs864309505
hgdprs864309505
ensemblrs864309505
gopubmedrs864309505
geneviewrs864309505
scholarrs864309505
googlers864309505
pharmgkbrs864309505
gwascentralrs864309505
openSNPrs864309505
23andMers864309505
23andMe allrs864309505
SNP Nexus

SNPshotrs864309505
SNPdbers864309505
MSV3drs864309505
GWAS Ctlgrs864309505
Max Magnitude0
ClinVar
Risk rs864309505(C;C)
Alt rs864309505(C;C)
Reference rs864309505(A;A)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 2
Variation info
Gene TPP1
CLNDBN Ceroid lipofuscinosis neuronal 2
Reversed 1
HGVS NC_000011.9:g.6636451T>G
CLNSRC
CLNACC RCV000202601.2,