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: rs112565881
rs112565881
1 1.000 0.120 11 57611937 splice donor variant G/A;T snv 0.700 0
dbSNP: rs121907951
rs121907951
1 1.000 0.120 11 57602081 stop gained C/G snv 0.700 0
dbSNP: rs1554995260
rs1554995260
3 1.000 0.120 11 57602098 frameshift variant -/T delins 0.700 0
dbSNP: rs1554996817
rs1554996817
1 1.000 0.120 11 57614338 frameshift variant T/- delins 0.700 0
dbSNP: rs1554996819
rs1554996819
1 1.000 0.120 11 57614345 stop gained -/A delins 0.700 0
dbSNP: rs1565169419
rs1565169419
1 1.000 0.120 11 57599882 stop gained A/T snv 0.700 0
dbSNP: rs1565169621
rs1565169621
1 1.000 0.120 11 57600167 frameshift variant TACC/- delins 0.700 0
dbSNP: rs1565173405
rs1565173405
1 1.000 0.120 11 57611934 stop gained T/A snv 0.700 0
dbSNP: rs200534715
rs200534715
1 1.000 0.120 11 57600179 missense variant A/G snv 2.3E-04 3.1E-05 0.700 0
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