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rs121912790

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912790(C;C)
Make rs121912790(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position1753593
GeneCTSD
is asnp
is mentioned by
dbSNPrs121912790
ebirs121912790
HLIrs121912790
Exacrs121912790
Varsomers121912790
Maprs121912790
PheGenIrs121912790
hapmaprs121912790
1000 genomesrs121912790
hgdprs121912790
ensemblrs121912790
gopubmedrs121912790
geneviewrs121912790
scholarrs121912790
googlers121912790
pharmgkbrs121912790
gwascentralrs121912790
openSNPrs121912790
23andMers121912790
23andMe allrs121912790
SNP Nexus

SNPshotrs121912790
SNPdbers121912790
MSV3drs121912790
GWAS Ctlgrs121912790
Max Magnitude0
OMIM116840
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912790(C;C)
Alt rs121912790(C;C)
Reference rs121912790(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.1774823C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019135.25,