TWNK, twinkle mtDNA helicase, 56652

N. diseases: 245; N. variants: 41
Source: ALL
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: rs672601360
rs672601360
1.000 10 100993209 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C4015307
Disease: PERRAULT SYNDROME 5
PERRAULT SYNDROME 5
0.800 1.000 1 2014 2014
dbSNP: rs672601361
rs672601361
1.000 10 100989721 missense variant T/G snv 4.0E-06; 8.0E-06 1.4E-05
CUI: C4015307
Disease: PERRAULT SYNDROME 5
PERRAULT SYNDROME 5
0.800 1.000 1 2014 2014
dbSNP: rs369588002
rs369588002
1.000 10 100990470 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C4015307
Disease: PERRAULT SYNDROME 5
PERRAULT SYNDROME 5
0.700 1.000 1 2014 2014
dbSNP: rs556445621
rs556445621
1.000 10 100989382 missense variant G/A;T snv 6.4E-05
CUI: C4015307
Disease: PERRAULT SYNDROME 5
PERRAULT SYNDROME 5
0.700 1.000 1 2014 2014
dbSNP: rs754081544
rs754081544
0.925 0.080 10 100988947 missense variant A/G snv 1.6E-05 7.0E-06
CUI: C4015307
Disease: PERRAULT SYNDROME 5
PERRAULT SYNDROME 5
0.700 0
dbSNP: rs759603316
rs759603316
1.000 10 100989084 missense variant C/A;G snv 4.0E-06
CUI: C4015307
Disease: PERRAULT SYNDROME 5
PERRAULT SYNDROME 5
0.700 0