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: rs730880257
rs730880257
KATNB1
1 1.000 16 57755878 missense variant C/T snv 0.800 0
dbSNP: rs730880258
rs730880258
KATNB1
1 1.000 16 57755893 missense variant T/G snv 0.800 0
dbSNP: rs730880259
rs730880259
KATNB1
1 1.000 16 57741743 missense variant G/A;T snv 4.0E-06 0.800 0
dbSNP: rs879255517
rs879255517
KATNB1
1 1.000 16 57751654 frameshift variant C/- delins 0.700 0
dbSNP: rs879255518
rs879255518
KATNB1 ; LOC107984852
1 1.000 16 57737244 start lost A/G snv 0.700 0
dbSNP: rs879255519
rs879255519
KATNB1
1 1.000 16 57751303 splice donor variant G/A snv 0.700 0