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: rs1291519904
rs1291519904
GJB2
0.925 0.120 13 20189325 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.800 1.000 12 1998 2016
dbSNP: rs1291519904
rs1291519904
GJB2
0.925 0.120 13 20189325 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.010 1.000 1 2018 2018