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: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		0.700 1.000 1 2016 2016
dbSNP: rs1131691771
rs1131691771
PHIP ; IRAK1BP1
0.807 0.160 6 78958469 splice donor variant ACTT/- delins
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		0.700 0
dbSNP: rs28935469
rs28935469
FLNA
0.882 0.280 X 154367844 missense variant G/A snv
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		0.700 0
dbSNP: rs886041125
rs886041125
ANKRD11
0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		0.700 0