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: rs121907948
rs121907948
3 0.882 0.160 11 57614475 missense variant G/A;C;T snv 0.800 1.000 17 1988 2018
dbSNP: rs281875170
rs281875170
1 1.000 0.120 11 57600377 missense variant G/A snv 0.800 1.000 17 1988 2018
dbSNP: rs28940870
rs28940870
3 0.882 0.160 11 57614474 missense variant C/A;T snv 0.800 1.000 17 1988 2018
dbSNP: rs121907947
rs121907947
2 0.925 0.160 11 57614450 missense variant G/A snv 0.700 1.000 16 1988 2014
dbSNP: rs121907949
rs121907949
2 0.925 0.160 11 57614439 missense variant T/A snv 0.700 1.000 16 1988 2014
dbSNP: rs121907950
rs121907950
2 0.925 0.120 11 57614472 missense variant C/T snv 0.700 1.000 16 1988 2014
dbSNP: rs281875168
rs281875168
1 1.000 0.120 11 57600288 missense variant A/G snv 0.700 1.000 16 1988 2014
dbSNP: rs281875169
rs281875169
1 1.000 0.120 11 57600336 missense variant C/T snv 0.700 1.000 16 1988 2014
dbSNP: rs281875171
rs281875171
1 1.000 0.120 11 57606013 missense variant T/C snv 0.700 1.000 16 1988 2014
dbSNP: rs281875172
rs281875172
1 1.000 0.120 11 57606019 missense variant T/A snv 0.700 1.000 16 1988 2014
dbSNP: rs281875173
rs281875173
1 1.000 0.120 11 57606413 missense variant T/C snv 0.700 1.000 16 1988 2014
dbSNP: rs281875174
rs281875174
1 1.000 0.120 11 57614367 missense variant T/A snv 0.700 1.000 16 1988 2014
dbSNP: rs281875175
rs281875175
1 1.000 0.120 11 57614400 missense variant T/C snv 0.700 1.000 16 1988 2014
dbSNP: rs281875176
rs281875176
1 1.000 0.120 11 57614418 missense variant T/C snv 0.700 1.000 16 1988 2014
dbSNP: rs281875177
rs281875177
1 1.000 0.120 11 57614496 missense variant T/G snv 0.700 1.000 16 1988 2014
dbSNP: rs281875178
rs281875178
1 1.000 0.120 11 57614568 missense variant A/G snv 0.700 1.000 16 1988 2014
dbSNP: rs1057520366
rs1057520366
1 1.000 0.120 11 57606195 missense variant A/C snv 0.700 1.000 1 2018 2018
dbSNP: rs1554995860
rs1554995860
1 1.000 0.120 11 57606471 stop gained C/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1554996833
rs1554996833
1 1.000 0.120 11 57614428 frameshift variant GA/- delins 0.700 1.000 1 2018 2018
dbSNP: rs1565168898
rs1565168898
1 1.000 0.120 11 57598271 start lost A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs1565170287
rs1565170287
1 1.000 0.120 11 57602069 frameshift variant ATCC/- delins 0.700 1.000 1 2018 2018
dbSNP: rs1565170364
rs1565170364
1 1.000 0.120 11 57602158 stop gained TC/AA mnv 0.700 1.000 1 2018 2018
dbSNP: rs1565171906
rs1565171906
1 1.000 0.120 11 57606530 stop gained C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs1565173309
rs1565173309
1 1.000 0.120 11 57611793 frameshift variant A/- del 0.700 1.000 1 2018 2018
dbSNP: rs1565174105
rs1565174105
1 1.000 0.120 11 57614498 stop gained C/T snv 0.700 1.000 1 2018 2018