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: rs1561831003
rs1561831003
PEX6
0.925 6 42978765 missense variant T/A snv
CUI: C4021535
Disease: Infantile sensorineural hearing impairment
Infantile sensorineural hearing impairment 		0.700 0
dbSNP: rs1567690011
rs1567690011
PRMT7
0.882 0.080 16 68337496 frameshift variant AG/- delins
CUI: C4021535
Disease: Infantile sensorineural hearing impairment
Infantile sensorineural hearing impairment 		0.700 0
dbSNP: rs1567721991
rs1567721991
PRMT7
0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins
CUI: C4021535
Disease: Infantile sensorineural hearing impairment
Infantile sensorineural hearing impairment 		0.700 0
dbSNP: rs772606235
rs772606235
TECTA
0.882 0.120 11 121137586 missense variant G/A;T snv 5.2E-05
CUI: C4021535
Disease: Infantile sensorineural hearing impairment
Infantile sensorineural hearing impairment 		0.700 0