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: rs2288904
rs2288904
SLC44A2
8 0.807 0.240 19 10631494 missense variant A/G snv 0.80 0.83 0.020 1.000 2 2015 2016
dbSNP: rs78707713
rs78707713
TSPAN15
2 1.000 0.120 10 69485520 intron variant T/C snv 8.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs9797861
rs9797861
SLC44A2
9 0.790 0.200 19 10632450 intron variant C/A;G;T snv 0.010 1.000 1 2016 2016