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: rs12409639
rs12409639
1 1 205669094 intron variant G/A snv 8.8E-02 0.800 1.000 1 2013 2013
dbSNP: rs16856139
rs16856139
2 1.000 0.040 1 205669336 intron variant C/G;T snv 0.800 1.000 1 2014 2014
dbSNP: rs2153904
rs2153904
1 1 205673662 intron variant T/G snv 0.73 0.700 1.000 1 2015 2015
dbSNP: rs4951018
rs4951018
1 1 205667206 intron variant A/C snv 0.21 0.700 1.000 1 2017 2017
dbSNP: rs72434280
rs72434280
1 1 205663090 inframe deletion CGACAGCCCTTCTGCTGGCTCGGTGGGGCCCAGCGC/- delins 0.700 1.000 1 2018 2018