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: rs142093111
rs142093111
1 2 169188258 missense variant G/A snv 1.7E-04 2.2E-04 0.700 1.000 1 2018 2018
dbSNP: rs16856823
rs16856823
3 2 169343942 intron variant A/T snv 4.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs200309784
rs200309784
2 2 169347589 intron variant AA/-;A;AAA;AAAA delins 0.700 1.000 1 2018 2018
dbSNP: rs4667594
rs4667594
2 2 169151996 intron variant T/A;C snv 0.700 1.000 1 2016 2016