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: rs2391518
rs2391518
1 4 129895905 intron variant T/C snv 0.59 0.700 1.000 1 2015 2015
dbSNP: rs2391540
rs2391540
1 4 129805678 intron variant T/A snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs2860199
rs2860199
1 4 129843450 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4398538
rs4398538
1 4 129803585 intron variant T/C snv 0.64 0.700 1.000 1 2019 2019