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: rs12142379
rs12142379
1 1.000 0.080 1 170724397 intron variant T/C snv 4.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs503706
rs503706
1 1.000 0.080 1 170665943 intron variant T/C snv 0.63 0.700 1.000 1 2018 2018
dbSNP: rs520525
rs520525
1 1.000 0.080 1 170669192 non coding transcript exon variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs593479
rs593479
1 1.000 0.080 1 170673758 intron variant T/C snv 0.60 0.010 1.000 1 2017 2017