Source: BEFREE

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: rs104894375
rs104894375
SLC25A3
1.000 0.040 12 98595490 missense variant G/A snv
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.010 1.000 1 2007 2007
dbSNP: rs1135402725
rs1135402725
PDHX
0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.010 1.000 1 2015 2015
dbSNP: rs1157637439
rs1157637439
VARS2
0.882 0.120 6 30920187 missense variant A/G snv
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.010 1.000 1 2018 2018
dbSNP: rs150283105
rs150283105
ACAD9 ; KIAA1257
3 128909410 missense variant C/T snv 7.2E-05 1.3E-04
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.010 1.000 1 2017 2017
dbSNP: rs201650281
rs201650281
KARS1
0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.010 1.000 1 2018 2018
dbSNP: rs374661051
rs374661051
UQCRC2 ; PDZD9
0.925 0.040 16 21965440 missense variant C/A;G;T snv 1.2E-05; 1.2E-05
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.010 1.000 1 2017 2017
dbSNP: rs763004980
rs763004980
ACAD9
3 128906139 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.010 1.000 1 2017 2017