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: rs1559751245
rs1559751245
MITF
0.882 0.280 3 69959280 missense variant C/G snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0