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: rs2417940
rs2417940
1 12 20864941 intron variant T/A;C snv 0.800 1.000 2 2010 2013
dbSNP: rs2117032
rs2117032
1 12 20921188 intron variant C/T snv 0.47 0.800 1.000 1 2009 2009
dbSNP: rs73233620
rs73233620
1 12 20871928 intron variant T/C;G snv 8.3E-02 0.700 1.000 2 2018 2019
dbSNP: rs137858877
rs137858877
1 12 20845519 intron variant T/C snv 4.2E-05 0.700 1.000 1 2018 2018
dbSNP: rs1604542
rs1604542
1 12 21028292 intron variant C/A snv 0.52 0.700 1.000 1 2018 2018
dbSNP: rs75062112
rs75062112
1 12 20837570 intron variant C/G snv 4.2E-05 0.700 1.000 1 2018 2018
dbSNP: rs76300959
rs76300959
1 12 21008244 intron variant A/G snv 0.29 0.700 1.000 1 2018 2018