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: rs727502819
rs727502819
KCNH1
2 0.925 0.280 1 210804149 missense variant T/C snv 0.800 0
dbSNP: rs730882172
rs730882172
KCNH1
1 1.000 0.120 1 210920047 missense variant G/T snv 0.800 0
dbSNP: rs730882173
rs730882173
KCNH1
1 1.000 0.120 1 210919955 missense variant C/G snv 0.800 0
dbSNP: rs730882174
rs730882174
KCNH1
1 1.000 0.120 1 210919979 missense variant C/T snv 0.800 0
dbSNP: rs730882175
rs730882175
KCNH1
3 1.000 0.120 1 210804143 missense variant C/T snv 0.800 0
dbSNP: rs730882176
rs730882176
KCNH1
1 1.000 0.120 1 210919967 missense variant G/C snv 0.800 0
dbSNP: rs730882177
rs730882177
ATP6V1B2
2 0.925 0.120 8 20220320 missense variant G/C snv 0.700 0