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rs200788729

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200788729(C;T)
Make rs200788729(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position12108004
GeneDHTKD1
is asnp
is mentioned by
dbSNPrs200788729
ebirs200788729
HLIrs200788729
Exacrs200788729
Varsomers200788729
Maprs200788729
PheGenIrs200788729
hapmaprs200788729
1000 genomesrs200788729
hgdprs200788729
ensemblrs200788729
gopubmedrs200788729
geneviewrs200788729
scholarrs200788729
googlers200788729
pharmgkbrs200788729
gwascentralrs200788729
openSNPrs200788729
23andMers200788729
23andMe allrs200788729
SNP Nexus

SNPshotrs200788729
SNPdbers200788729
MSV3drs200788729
GWAS Ctlgrs200788729
Max Magnitude0
ClinVar
Risk rs200788729(T;T)
Alt rs200788729(T;T)
Reference rs200788729(C;C)
Significance Probable-Pathogenic
Disease 2-aminoadipic 2-oxoadipic aciduria
Variation info
Gene DHTKD1
CLNDBN 2-aminoadipic 2-oxoadipic aciduria
Reversed 0
HGVS NC_000010.10:g.12150003C>T
CLNSRC
CLNACC RCV000199635.1,