KITLG, KIT ligand, 4254

N. diseases: 249; N. variants: 23
Disease: DEAFNESS, AUTOSOMAL DOMINANT 69 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs864309654
rs864309654 		1.000 12 88518858 inframe deletion AAT/- del
CUI: C4225241
Disease: DEAFNESS, AUTOSOMAL DOMINANT 69
DEAFNESS, AUTOSOMAL DOMINANT 69 		0.700 0
dbSNP: rs864309653
rs864309653 		1.000 12 88518757 frameshift variant TATGATGGAATAATTACT/A delins
CUI: C4225241
Disease: DEAFNESS, AUTOSOMAL DOMINANT 69
DEAFNESS, AUTOSOMAL DOMINANT 69 		0.700 0