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rs117225135

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs117225135(A;A)
Make rs117225135(A;G)
ReferenceGRCh38 38.1/142
Chromosome10
Position12112930
GeneDHTKD1
is asnp
is mentioned by
dbSNPrs117225135
ebirs117225135
HLIrs117225135
Exacrs117225135
Varsomers117225135
Maprs117225135
PheGenIrs117225135
hapmaprs117225135
1000 genomesrs117225135
hgdprs117225135
ensemblrs117225135
gopubmedrs117225135
geneviewrs117225135
scholarrs117225135
googlers117225135
pharmgkbrs117225135
gwascentralrs117225135
openSNPrs117225135
23andMers117225135
23andMe allrs117225135
SNP Nexus

SNPshotrs117225135
SNPdbers117225135
MSV3drs117225135
GWAS Ctlgrs117225135
Max Magnitude0
ClinVar
Risk rs117225135(A;A)
Alt rs117225135(A;A)
Reference rs117225135(G;G)
Significance Pathogenic
Disease 2-aminoadipic 2-oxoadipic aciduria not provided
Variation info
Gene DHTKD1
CLNDBN 2-aminoadipic 2-oxoadipic aciduria not provided
Reversed 0
HGVS NC_000010.10:g.12154929G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032764.2, RCV000199635.1, RCV000238689.1,