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: rs10478723
rs10478723
1 6 12295228 intron variant G/A snv 0.15 0.010 1.000 1 2009 2009
dbSNP: rs1800542
rs1800542
1 6 12292295 intron variant G/A snv 5.6E-02 0.11 0.010 1.000 1 2009 2009
dbSNP: rs5370
rs5370
37 0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21 0.010 1.000 1 2018 2018