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: rs752298579
rs752298579
TANGO2
48 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057518760
rs1057518760
KIF1A
4 1.000 0.080 2 240788182 missense variant C/T snv 0.700 0
dbSNP: rs587777446
rs587777446
IFIH1
11 0.807 0.200 2 162273913 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs863224880
rs863224880
IGHMBP2
7 0.925 0.160 11 68906074 stop gained G/A snv 0.700 0