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: rs1114167295
rs1114167295
MAGED2
6 0.827 0.160 X 54812169 frameshift variant C/- del 0.700 0
dbSNP: rs1114167296
rs1114167296
TMEM47
6 0.827 0.160 X 34656995 missense variant C/G snv 0.700 0
dbSNP: rs1558939623
rs1558939623
CHN1
19 0.732 0.480 2 174824479 missense variant C/T snv 0.700 0
dbSNP: rs730882245
rs730882245
KIAA1109
6 0.827 0.160 4 122207168 stop gained T/A snv 0.700 0
dbSNP: rs730882250
rs730882250
DPH1
5 0.882 0.080 17 2039760 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs771409809
rs771409809
WFS1
19 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
dbSNP: rs869312685
rs869312685
ITPR1
11 0.807 0.240 3 4815135 missense variant G/A;C snv 0.700 0
dbSNP: rs886039793
rs886039793
MARK4 ; EXOC3L2
4 0.882 0.120 19 45227667 frameshift variant -/G delins 0.700 0
dbSNP: rs28931594
rs28931594
GJB2
9 0.790 0.280 13 20189434 missense variant C/A;T snv 0.010 1.000 1 2009 2009