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: rs2228139
rs2228139
1 2 102165189 missense variant C/A;G snv 5.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs3917265
rs3917265
2 1.000 0.120 2 102162001 intron variant T/C snv 0.50 0.700 1.000 1 2018 2018
dbSNP: rs7588201
rs7588201
1 2 102129816 intron variant A/C snv 0.39 0.700 1.000 1 2018 2018