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rs797045137

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045137(G;T)
Make rs797045137(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position1758994
GeneCTSD
is asnp
is mentioned by
dbSNPrs797045137
ebirs797045137
HLIrs797045137
Exacrs797045137
Varsomers797045137
Maprs797045137
PheGenIrs797045137
hapmaprs797045137
1000 genomesrs797045137
hgdprs797045137
ensemblrs797045137
gopubmedrs797045137
geneviewrs797045137
scholarrs797045137
googlers797045137
pharmgkbrs797045137
gwascentralrs797045137
openSNPrs797045137
23andMers797045137
23andMe allrs797045137
SNP Nexus

SNPshotrs797045137
SNPdbers797045137
MSV3drs797045137
GWAS Ctlgrs797045137
Max Magnitude0
ClinVar
Risk rs797045137(T;T)
Alt rs797045137(T;T)
Reference rs797045137(G;G)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 10
Variation info
Gene CTSD
CLNDBN Ceroid lipofuscinosis neuronal 10
Reversed 1
HGVS NC_000011.9:g.1780224C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000190882.2,