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: rs371086981
rs371086981
GJB2
0.925 0.120 13 20189580 start lost A/C;G snv 4.0E-06 2.8E-05
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 2 2002 2011
dbSNP: rs371086981
rs371086981
GJB2
0.925 0.120 13 20189580 start lost A/C;G snv 4.0E-06 2.8E-05
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 1.000 2 2002 2011