Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519566
rs1057519566
MDH2
0.851 0.160 7 76063579 missense variant C/T snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 1.000 1 2017 2017
dbSNP: rs375002796
rs375002796
MDH2
0.851 0.160 7 76058047 missense variant C/T snv 5.2E-05 2.8E-05
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 1.000 1 2017 2017