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: rs121912615
rs121912615
SI
1 1.000 0.080 3 165046998 missense variant A/C;G snv 1.6E-03 0.800 1.000 9 1996 2017
dbSNP: rs121912616
rs121912616
SI
1 1.000 0.080 3 165021265 missense variant C/T snv 1.2E-03 1.5E-03 0.800 1.000 9 1996 2018
dbSNP: rs79717168
rs79717168
SI
1 1.000 0.080 3 164983015 missense variant A/C snv 9.7E-04 1.1E-03 0.800 1.000 8 1996 2012
dbSNP: rs121912611
rs121912611
SI
1 1.000 0.080 3 165019732 missense variant T/G snv 1.6E-05 2.1E-05 0.800 1.000 5 1996 2006
dbSNP: rs121912612
rs121912612
SI
1 1.000 0.080 3 165069101 missense variant T/C snv 0.800 1.000 5 1996 2006
dbSNP: rs121912613
rs121912613
SI
1 1.000 0.080 3 165046869 missense variant A/G snv 0.800 1.000 5 1996 2006
dbSNP: rs121912614
rs121912614
SI
1 1.000 0.080 3 165017621 missense variant C/T snv 4.0E-06 0.800 1.000 5 1996 2006
dbSNP: rs267607049
rs267607049
SI
1 1.000 0.080 3 165060026 missense variant A/G snv 0.800 1.000 5 1996 2006
dbSNP: rs765433197
rs765433197
SI
1 1.000 0.080 3 165046948 missense variant A/G snv 4.4E-05 4.2E-05 0.700 1.000 5 1996 2006
dbSNP: rs143388292
rs143388292
SI
1 1.000 0.080 3 165009359 missense variant T/C snv 2.6E-04 3.4E-04 0.700 0
dbSNP: rs1553775177
rs1553775177
SI
1 1.000 0.080 3 165040938 splice donor variant A/C snv 0.700 0
dbSNP: rs779692980
rs779692980
SI
1 1.000 0.080 3 164996634 missense variant A/C;G snv 4.0E-06; 1.6E-05 0.010 1.000 1 2017 2017