Gene: TWNK ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs141315771
rs141315771
TWNK
1 1.000 0.280 10 100993257 missense variant G/A snv 2.8E-05 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs863223921
rs863223921
TWNK ; MRPL43
3 0.925 0.280 10 100989406 missense variant A/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017