rs775606471, GCDH

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Abnormality of acetylcarnitine metabolism
CUI: C4023058
Disease: Abnormality of acetylcarnitine metabolism
1 1.000 0.120 19 12896938 missense variant G/A;C;T snv 1.2E-05 0.700 0
Glutaric aciduria, type 1
CUI: C0268595
Disease: Glutaric aciduria, type 1
112 1.000 0.120 19 12896938 missense variant G/A;C;T snv 1.2E-05 0.700 0
Oligohydramnios
CUI: C0079924
Disease: Oligohydramnios
21 1.000 0.120 19 12896938 missense variant G/A;C;T snv 1.2E-05 0.700 0