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rs121912789

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912789(A;A)
Make rs121912789(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position1757343
GeneCTSD
is asnp
is mentioned by
dbSNPrs121912789
ebirs121912789
HLIrs121912789
Exacrs121912789
Varsomers121912789
Maprs121912789
PheGenIrs121912789
hapmaprs121912789
1000 genomesrs121912789
hgdprs121912789
ensemblrs121912789
gopubmedrs121912789
geneviewrs121912789
scholarrs121912789
googlers121912789
pharmgkbrs121912789
gwascentralrs121912789
openSNPrs121912789
23andMers121912789
23andMe allrs121912789
SNP Nexus

SNPshotrs121912789
SNPdbers121912789
MSV3drs121912789
GWAS Ctlgrs121912789
Max Magnitude0
OMIM116840
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912789(A;A)
Alt rs121912789(A;A)
Reference rs121912789(T;T)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 10
Variation info
Gene CTSD
CLNDBN Ceroid lipofuscinosis neuronal 10
Reversed 1
HGVS NC_000011.9:g.1778573A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019134.29,