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: rs199883710
rs199883710
GJB2
0.925 0.120 13 20189344 stop gained G/A snv 8.0E-06 6.3E-05
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 2 2006 2007
dbSNP: rs199883710
rs199883710
GJB2
0.925 0.120 13 20189344 stop gained G/A snv 8.0E-06 6.3E-05
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 1.000 2 2006 2007