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: rs1057517519
rs1057517519
GJB2
0.925 0.120 13 20189523 missense variant A/G snv
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 5 2001 2014
dbSNP: rs1057517519
rs1057517519
GJB2
0.925 0.120 13 20189523 missense variant A/G snv
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 1.000 5 2001 2014
dbSNP: rs1057517519
rs1057517519
GJB2
0.925 0.120 13 20189523 missense variant A/G snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0