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: rs183258549
rs183258549
1.000 12 80460829 stop gained T/A;C snv
CUI: C3150654
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84A
DEAFNESS, AUTOSOMAL RECESSIVE 84A
0.700 0
dbSNP: rs281865414
rs281865414
1.000 12 80460707 missense variant A/G snv 5.6E-05
CUI: C3150654
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84A
DEAFNESS, AUTOSOMAL RECESSIVE 84A
0.700 0