Source: ALL
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: rs121908453
rs121908453
RANBP2 ; EDAR
3 0.882 0.080 2 108896995 missense variant C/T snv 0.800 1.000 3 1999 2008
dbSNP: rs557166582
rs557166582
RANBP2 ; EDAR
2 0.925 0.080 2 108929262 missense variant G/A;T snv 4.0E-06; 3.6E-05 0.700 1.000 1 2012 2012
dbSNP: rs1060499610
rs1060499610
RANBP2 ; EDAR
1 1.000 2 108929270 frameshift variant C/- delins 0.700 0
dbSNP: rs1310296844
rs1310296844
RANBP2 ; EDAR
2 0.925 0.080 2 108897122 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1553444895
rs1553444895
RANBP2 ; EDAR
2 0.925 0.080 2 108906307 splice donor variant C/T snv 0.700 0
dbSNP: rs886041005
rs886041005
RANBP2 ; EDAR
1 1.000 2 108896970 stop gained A/C;T snv 0.700 0
dbSNP: rs917638291
rs917638291
RANBP2 ; EDAR
2 0.925 0.080 2 108897091 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs104894415
rs104894415
GJB6
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
RANBP2 ; EDAR
11 0.752 0.160 2 108897145 missense variant A/G snv 0.15 5.9E-02 0.010 1.000 1 2016 2016