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: rs201106962
rs201106962
5 0.851 0.080 4 89828156 missense variant A/C snv 8.0E-05 7.0E-05 0.010 1.000 1 2013 2013
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.070 0.857 7 2001 2019
dbSNP: rs104893878
rs104893878
21 0.732 0.160 4 89835580 missense variant C/G snv 0.020 1.000 2 2001 2019
dbSNP: rs104893875
rs104893875
13 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs542171324
rs542171324
6 0.851 0.160 4 89828148 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.010 1.000 1 2017 2017