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: rs121918706
rs121918706
2 0.925 0.040 3 24143511 missense variant C/T snv 0.020 1.000 2 1997 2003
dbSNP: rs121918707
rs121918707
2 0.925 0.040 3 24143512 missense variant G/A;C snv 7.0E-06 0.020 1.000 2 1996 1997
dbSNP: rs121918694
rs121918694
2 0.925 0.040 3 24143539 missense variant C/G;T snv 0.710 1.000 1 2003 2003
dbSNP: rs758677446
rs758677446
2 0.925 0.160 3 24190250 missense variant C/T snv 6.4E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1555545033
rs1555545033
7 0.807 0.160 17 40088306 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs748793969
rs748793969
5 0.827 0.120 15 45106327 missense variant G/A;T snv 3.2E-05; 6.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs189261858
rs189261858
8 0.776 0.160 14 81143407 missense variant G/A;T snv 2.3E-04 0.010 1.000 1 2006 2006
dbSNP: rs1405414838
rs1405414838
2 0.925 0.040 10 84232835 missense variant C/T snv 0.010 1.000 1 1996 1996
dbSNP: rs142155451
rs142155451
1 1.000 0.040 10 96982676 missense variant A/G snv 1.4E-05 0.010 1.000 1 1998 1998