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: rs121908116
rs121908116
2 0.925 0.080 1 236482366 missense variant T/G snv 0.800 1.000 2 2007 2011
dbSNP: rs1558793621
rs1558793621
2 0.925 0.080 2 108897084 frameshift variant -/C delins 0.700 1.000 2 2013 2015
dbSNP: rs1558793736
rs1558793736
2 0.925 0.080 2 108897165 frameshift variant C/- del 0.700 1.000 2 2013 2015
dbSNP: rs757233170
rs757233170
2 0.925 0.080 2 108929381 splice acceptor variant T/C snv 8.0E-06 7.0E-06 0.700 1.000 2 1999 2011
dbSNP: rs1432041144
rs1432041144
2 0.925 0.080 2 108907892 stop gained C/A snv 7.0E-06 0.700 0
dbSNP: rs954823206
rs954823206
2 0.925 1 236482418 stop gained G/A snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs104894415
rs104894415
11 0.742 0.240 13 20223450 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs132630312
rs132630312
EDA
6 0.807 0.120 X 69957093 missense variant C/T snv 1.9E-05 0.010 1.000 1 2016 2016
dbSNP: rs132630317
rs132630317
EDA
5 0.827 0.080 X 70035478 missense variant G/A;T snv 0.010 1.000 1 2005 2005
dbSNP: rs3827760
rs3827760
11 0.752 0.160 2 108897145 missense variant A/G snv 0.15 5.9E-02 0.010 1.000 1 2016 2016