Source: ALL

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: rs587783647
rs587783647
GJB2
0.925 0.120 13 20188932 frameshift variant TCTA/- delins 4.8E-05 2.1E-05
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 4 2000 2014
dbSNP: rs587783647
rs587783647
GJB2
0.925 0.120 13 20188932 frameshift variant TCTA/- delins 4.8E-05 2.1E-05
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 1.000 3 2000 2014
dbSNP: rs587783647
rs587783647
GJB2
0.925 0.120 13 20188932 frameshift variant TCTA/- delins 4.8E-05 2.1E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0