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: rs606231237
rs606231237
DHTKD1
1 1.000 10 12097780 stop gained T/C;G snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs762729182
rs762729182
DHTKD1
1 1.000 10 12097868 missense variant C/A;T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs770649540
rs770649540
DHTKD1
1 1.000 10 12118846 stop gained C/G;T snv 8.1E-06; 8.1E-06 0.700 0