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: rs1561273261
rs1561273261
KIF2A ; DIMT1
17 0.790 0.160 5 62361307 missense variant G/A snv 0.700 0
dbSNP: rs387907196
rs387907196
EXOSC3
12 0.807 0.080 9 37784953 missense variant C/G snv 2.0E-05 0.700 0
dbSNP: rs869312685
rs869312685
ITPR1
11 0.807 0.240 3 4815135 missense variant G/A;C snv 0.700 0