Disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894415
GJB6
0.742 0.240 13 20223450 missense variant C/G;T snv 4.0E-06 11
rs3827760
RANBP2 ; EDAR
0.752 0.160 2 108897145 missense variant A/G snv 0.15 5.9E-02 11
rs132630312
EDA
0.807 0.120 X 69957093 missense variant C/T snv 1.9E-05 6
rs132630317
EDA
0.827 0.080 X 70035478 missense variant G/A;T snv 5
rs121908116
EDARADD
0.925 0.080 1 236482366 missense variant T/G snv 2
rs1432041144
RANBP2 ; EDAR
0.925 0.080 2 108907892 stop gained C/A snv 7.0E-06 2
rs1558793621
EDAR ; RANBP2
0.925 0.080 2 108897084 frameshift variant -/C delins 2
rs1558793736
RANBP2 ; EDAR
0.925 0.080 2 108897165 frameshift variant C/- del 2
rs757233170
RANBP2 ; EDAR
0.925 0.080 2 108929381 splice acceptor variant T/C snv 8.0E-06 7.0E-06 2