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: rs1032128
rs1032128
1 1.000 0.040 8 118939534 intron variant G/A snv 0.30 0.010 < 0.001 1 2019 2019
dbSNP: rs1564861
rs1564861
1 1.000 0.040 8 118953670 upstream gene variant A/C snv 0.43 0.010 1.000 1 2019 2019
dbSNP: rs1905786
rs1905786
2 1.000 0.040 8 118939453 intron variant T/A;C snv 0.010 < 0.001 1 2019 2019