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: rs672601360
rs672601360
TWNK
1 1.000 10 100993209 missense variant A/G snv 4.0E-06 7.0E-06 0.800 1.000 1 2014 2014
dbSNP: rs672601361
rs672601361
TWNK
1 1.000 10 100989721 missense variant T/G snv 4.0E-06; 8.0E-06 1.4E-05 0.800 1.000 1 2014 2014
dbSNP: rs369588002
rs369588002
TWNK
1 1.000 10 100990470 missense variant G/A snv 2.0E-05 1.4E-05 0.700 1.000 1 2014 2014
dbSNP: rs556445621
rs556445621
TWNK ; MRPL43
1 1.000 10 100989382 missense variant G/A;T snv 6.4E-05 0.700 1.000 1 2014 2014
dbSNP: rs754081544
rs754081544
TWNK ; MRPL43
5 0.925 0.080 10 100988947 missense variant A/G snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs759603316
rs759603316
TWNK ; MRPL43
1 1.000 10 100989084 missense variant C/A;G snv 4.0E-06 0.700 0