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: rs111033297
rs111033297
GJB2
1.000 0.120 13 20189413 stop gained G/A snv 2.8E-05 2.8E-05
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 1 2005 2005
dbSNP: rs111033297
rs111033297
GJB2
1.000 0.120 13 20189413 stop gained G/A snv 2.8E-05 2.8E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0