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: rs1990760
rs1990760
33 0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 0.030 0.667 3 2011 2016
dbSNP: rs35337543
rs35337543
1 2 162279995 splice donor variant C/G;T snv 6.8E-03; 8.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs35667974
rs35667974
9 0.776 0.280 2 162268127 missense variant T/C snv 1.1E-02 1.2E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs35732034
rs35732034
2 1.000 0.120 2 162268086 splice donor variant C/T snv 6.6E-03 5.1E-03 0.010 < 0.001 1 2011 2011
dbSNP: rs35744605
rs35744605
2 1.000 0.120 2 162277580 stop gained C/A;G;T snv 3.2E-03; 4.0E-06; 4.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs3747517
rs3747517
13 0.732 0.360 2 162272314 missense variant T/C snv 0.68 0.68 0.010 1.000 1 2015 2015