Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs377656387
rs377656387
0.925 0.080 4 158706351 missense variant C/T snv 2.4E-05 2.8E-05
CUI: C4016438
Disease: GLUTARIC ACIDEMIA IIC, LATE-ONSET
GLUTARIC ACIDEMIA IIC, LATE-ONSET
0.700 0
dbSNP: rs387907170
rs387907170
0.925 0.080 4 158703436 missense variant T/C snv 4.0E-06
CUI: C4016438
Disease: GLUTARIC ACIDEMIA IIC, LATE-ONSET
GLUTARIC ACIDEMIA IIC, LATE-ONSET
0.700 0