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: rs121908452
rs121908452
RANBP2 ; EDAR
2 0.925 0.080 2 108897182 stop gained G/A snv 0.700 1.000 5 1999 2016
dbSNP: rs74315309
rs74315309
EDARADD
2 0.925 0.080 1 236482455 missense variant G/A snv 4.0E-06 0.700 0
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: 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: rs199544410
rs199544410
RANBP2 ; EDAR
1 1.000 0.080 2 108907920 stop gained G/A;T snv 4.0E-06; 1.2E-05 2.1E-05 0.700 0
dbSNP: rs1558814135
rs1558814135
RANBP2 ; EDAR
1 1.000 0.080 2 108929347 frameshift variant G/AA delins 0.700 0
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: 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: rs121908116
rs121908116
EDARADD
2 0.925 0.080 1 236482366 missense variant T/G snv 0.700 0
dbSNP: rs797044436
rs797044436
RANBP2 ; EDAR
1 1.000 0.080 2 108910784 frameshift variant TCTT/- delins 0.700 1.000 2 2005 2012