Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519374
rs1057519374
SEMA3D
1.000 0.120 7 85012812 missense variant G/A snv
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.700 1.000 1 2017 2017
dbSNP: rs1553403917
rs1553403917
ALMS1
0.807 0.320 2 73451171 frameshift variant -/A delins
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.700 1.000 1 2018 2018
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.700 1.000 1 2016 2016
dbSNP: rs748718975
rs748718975
DPT
1.000 0.120 1 168696611 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.700 1.000 1 2017 2017
dbSNP: rs779027563
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.700 1.000 1 2017 2017
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.700 0
dbSNP: rs104894409
rs104894409
GJB2
0.827 0.120 13 20189332 missense variant C/A;G;T snv 1.6E-05; 3.6E-05; 4.0E-06
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.700 0
dbSNP: rs111033437
rs111033437
MYO7A
0.882 0.120 11 77179925 missense variant G/A;T snv
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.700 0
dbSNP: rs121912683
rs121912683
SLC25A4
0.851 0.200 4 185145020 missense variant C/A snv 4.0E-06 7.0E-06
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.700 0
dbSNP: rs1251778848
rs1251778848
KMT2D
0.790 0.400 12 49039277 stop gained G/A snv
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.700 0
dbSNP: rs1554218566
rs1554218566
MYO6
0.925 0.120 6 75890115 stop gained C/A snv
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.700 0
dbSNP: rs1564405163
rs1564405163
GATA3
0.807 0.280 10 8073746 missense variant G/C snv
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.700 0
dbSNP: rs1568523935
rs1568523935
SLC25A42
0.776 0.240 19 19105656 stop gained C/G snv
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.700 0
dbSNP: rs1569308571
rs1569308571
SMPX
1.000 0.120 X 21743794 frameshift variant -/T delins
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.700 0
dbSNP: rs61750420
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.700 0
dbSNP: rs727502810
rs727502810
TUB ; RIC3
0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.700 0
dbSNP: rs727503773
rs727503773
SMC1A
0.882 0.160 X 53412950 inframe deletion TCT/- delins
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.700 0
dbSNP: rs879253741
rs879253741
GJB2
0.882 0.200 13 20189516 missense variant C/A snv
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.700 0