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: rs137853185
rs137853185
ANAPC15 ; LRTOMT
1.000 0.120 11 72106094 missense variant G/A snv 2.6E-05 1.4E-05
CUI: C1969621
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 63
DEAFNESS, AUTOSOMAL RECESSIVE 63 		0.800 1.000 0 2008 2017
dbSNP: rs137853186
rs137853186
ANAPC15 ; LRTOMT
1.000 0.120 11 72106165 missense variant T/C snv
CUI: C1969621
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 63
DEAFNESS, AUTOSOMAL RECESSIVE 63 		0.800 1.000 0 2008 2017
dbSNP: rs137853187
rs137853187
ANAPC15 ; LRTOMT
1.000 0.120 11 72106180 missense variant G/A snv 3.6E-05 3.5E-05
CUI: C1969621
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 63
DEAFNESS, AUTOSOMAL RECESSIVE 63 		0.800 1.000 0 2008 2017
dbSNP: rs137853188
rs137853188
ANAPC15 ; LRTOMT
1.000 0.120 11 72106185 stop gained C/G snv
CUI: C1969621
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 63
DEAFNESS, AUTOSOMAL RECESSIVE 63 		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
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: rs545947177
rs545947177
ANAPC15 ; LRTOMT
1.000 0.120 11 72106214 splice region variant A/C snv 4.5E-05 2.1E-05
CUI: C1969621
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 63
DEAFNESS, AUTOSOMAL RECESSIVE 63 		0.700 0