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: rs1565331646
rs1565331646
ANAPC15 ; LRTOMT
1.000 0.120 11 72107947 frameshift variant -/CTCG delins
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs1565331646
rs1565331646
ANAPC15 ; LRTOMT
1.000 0.120 11 72107947 frameshift variant -/CTCG delins
CUI: C1969621
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 63
DEAFNESS, AUTOSOMAL RECESSIVE 63 		0.700 0