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: rs1189909394
rs1189909394
KCNK4 ; KCNK4-TEX40
5 11 64298178 missense variant G/A;C snv 7.0E-06 0.700 0
dbSNP: rs1565369746
rs1565369746
KCNK4 ; KCNK4-TEX40
5 11 64297507 missense variant C/A snv 0.700 0
dbSNP: rs267607093
rs267607093
SRD5A3
14 0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs387906846
rs387906846
ARID1A
19 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0