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: rs848486
rs848486
1 7 77922810 missense variant G/A;T snv 0.61 0.700 1.000 2 2016 2019
dbSNP: rs10270542
rs10270542
2 7 77894452 intron variant A/G snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs201777573
rs201777573
1 7 77853399 intron variant TT/-;T;TTT;TTTTTTTTTTT delins 0.23 0.700 1.000 1 2019 2019
dbSNP: rs55759218
rs55759218
1 7 77824040 intron variant G/A snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs848490
rs848490
2 7 77925688 intron variant G/C snv 0.78 0.700 1.000 1 2016 2016