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rs397514534

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514534(C;T)
Make rs397514534(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position12094141
GeneDHTKD1
is asnp
is mentioned by
dbSNPrs397514534
ebirs397514534
HLIrs397514534
Exacrs397514534
Varsomers397514534
Maprs397514534
PheGenIrs397514534
hapmaprs397514534
1000 genomesrs397514534
hgdprs397514534
ensemblrs397514534
gopubmedrs397514534
geneviewrs397514534
scholarrs397514534
googlers397514534
pharmgkbrs397514534
gwascentralrs397514534
openSNPrs397514534
23andMers397514534
23andMe allrs397514534
SNP Nexus

SNPshotrs397514534
SNPdbers397514534
MSV3drs397514534
GWAS Ctlgrs397514534
Max Magnitude0
ClinVar
Risk rs397514534(T;T)
Alt rs397514534(T;T)
Reference rs397514534(C;C)
Significance Pathogenic
Disease 2-aminoadipic 2-oxoadipic aciduria
Variation info
Gene DHTKD1
CLNDBN 2-aminoadipic 2-oxoadipic aciduria
Reversed 0
HGVS NC_000010.10:g.12136140C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032765.2,