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: rs374997012
rs374997012
TWNK ; MRPL43
9 0.851 0.280 10 100989114 missense variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs886037832
rs886037832
TWNK ; MRPL43
9 0.851 0.280 10 100988541 frameshift variant T/- delins 0.700 1.000 1 2016 2016