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: 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: rs121908116
rs121908116
EDARADD
2 0.925 0.080 1 236482366 missense variant T/G snv 0.700 0
dbSNP: rs397515575
rs397515575
EDARADD
1 1.000 0.080 1 236482403 inframe deletion AACGGT/- del 0.700 0
dbSNP: rs74315309
rs74315309
EDARADD
2 0.925 0.080 1 236482455 missense variant G/A 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: rs121908450
rs121908450
RANBP2 ; EDAR
4 0.851 0.160 2 108929288 missense variant C/T snv 4.0E-06 1.4E-05 0.800 1.000 8 1999 2016
dbSNP: rs121908451
rs121908451
RANBP2 ; EDAR
1 1.000 0.080 2 108929295 missense variant A/G snv 1.6E-05 1.4E-05 0.700 1.000 8 1999 2016
dbSNP: rs121908453
rs121908453
RANBP2 ; EDAR
3 0.882 0.080 2 108896995 missense variant C/T snv 0.700 1.000 8 1999 2016
dbSNP: rs121908454
rs121908454
RANBP2 ; EDAR
1 1.000 0.080 2 108897130 missense variant C/T snv 1.2E-05 7.0E-06 0.800 1.000 8 1999 2016
dbSNP: rs121908455
rs121908455
RANBP2 ; EDAR
1 1.000 0.080 2 108929225 missense variant T/G snv 1.2E-05 0.800 1.000 8 1999 2016
dbSNP: rs144473052
rs144473052
RANBP2 ; EDAR
1 1.000 0.080 2 108929261 missense variant C/G;T snv 4.0E-06; 2.0E-05 0.700 1.000 8 1999 2016
dbSNP: rs528478080
rs528478080
RANBP2 ; EDAR
1 1.000 0.080 2 108896952 missense variant C/A snv 4.0E-06 1.4E-05 0.700 1.000 8 1999 2016
dbSNP: rs773885029
rs773885029
RANBP2 ; EDAR
1 1.000 0.080 2 108896954 missense variant A/C;G snv 4.0E-06 0.800 1.000 8 1999 2016
dbSNP: rs778903951
rs778903951
RANBP2 ; EDAR
1 1.000 0.080 2 108930154 missense variant C/T snv 0.700 1.000 8 1999 2016
dbSNP: rs886039564
rs886039564
RANBP2 ; EDAR
1 1.000 0.080 2 108897181 missense variant C/T snv 0.700 1.000 8 1999 2016
dbSNP: rs121908452
rs121908452
RANBP2 ; EDAR
2 0.925 0.080 2 108897182 stop gained G/A snv 0.700 1.000 5 1999 2016
dbSNP: rs1553443360
rs1553443360
RANBP2 ; EDAR
1 1.000 0.080 2 108897060 frameshift variant AA/- delins 0.700 1.000 2 2013 2015
dbSNP: rs1558793621
rs1558793621
RANBP2 ; EDAR
2 0.925 0.080 2 108897084 frameshift variant -/C delins 0.700 1.000 2 2013 2015
dbSNP: rs1558793736
rs1558793736
RANBP2 ; EDAR
2 0.925 0.080 2 108897165 frameshift variant C/- del 0.700 1.000 2 2013 2015
dbSNP: rs757233170
rs757233170
RANBP2 ; EDAR
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: rs797044436
rs797044436
RANBP2 ; EDAR
1 1.000 0.080 2 108910784 frameshift variant TCTT/- delins 0.700 1.000 2 2005 2012
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
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: rs1310296844
rs1310296844
RANBP2 ; EDAR
2 0.925 0.080 2 108897122 missense variant C/T snv 7.0E-06 0.700 0