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: rs1396171148
rs1396171148
5 0.851 0.200 2 222613892 missense variant T/G snv 0.700 0
dbSNP: rs1419129874
rs1419129874
5 0.851 0.200 2 222642894 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs1466642025
rs1466642025
5 0.851 0.200 2 222631635 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs1553553086
rs1553553086
9 0.827 0.280 2 222623699 missense variant C/T snv 0.700 0
dbSNP: rs1553554543
rs1553554543
5 0.851 0.200 2 222631606 missense variant T/C snv 0.700 0
dbSNP: rs1451499324
rs1451499324
2 0.925 0.080 8 22163902 missense variant C/G snv 8.1E-06 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs754831645
rs754831645
2 0.925 0.080 8 22163134 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs35705950
rs35705950
14 0.763 0.240 11 1219991 splice region variant G/A;T snv 0.040 1.000 4 2011 2019
dbSNP: rs5743890
rs5743890
4 0.925 0.040 11 1304599 intron variant T/C snv 9.7E-02 0.010 1.000 1 2019 2019