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: rs796052686
rs796052686
KCTD7
22 0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05 0.700 0
dbSNP: rs80338945
rs80338945
GJB2
32 0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 0.700 0
dbSNP: rs912001256
rs912001256
SCN4A
17 0.851 0.240 17 63947062 stop gained G/A snv 0.700 0
dbSNP: rs1163944538
rs1163944538
TMEM94
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1553212868
rs1553212868
POGZ
17 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0
dbSNP: rs1555565774
rs1555565774
EFTUD2
16 0.807 0.360 17 44862753 frameshift variant G/- delins 0.700 0
dbSNP: rs1558373252
rs1558373252
SOX11 ; LINC01248
19 0.790 0.120 2 5693013 frameshift variant T/- delins 0.700 0
dbSNP: rs1559470315
rs1559470315
CTNNB1
26 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
dbSNP: rs312262690
rs312262690
ANTXR2
28 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
dbSNP: rs1131691299
rs1131691299
DDX3X
9 0.882 0.160 X 41341587 frameshift variant C/- del 0.700 0