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rs797045138

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045138(A;A)
Make rs797045138(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position1753546
GeneCTSD
is asnp
is mentioned by
dbSNPrs797045138
ebirs797045138
HLIrs797045138
Exacrs797045138
Varsomers797045138
Maprs797045138
PheGenIrs797045138
hapmaprs797045138
1000 genomesrs797045138
hgdprs797045138
ensemblrs797045138
gopubmedrs797045138
geneviewrs797045138
scholarrs797045138
googlers797045138
pharmgkbrs797045138
gwascentralrs797045138
openSNPrs797045138
23andMers797045138
23andMe allrs797045138
SNP Nexus

SNPshotrs797045138
SNPdbers797045138
MSV3drs797045138
GWAS Ctlgrs797045138
Max Magnitude0
ClinVar
Risk rs797045138(A;A)
Alt rs797045138(A;A)
Reference rs797045138(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.1774776C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000190883.2,