rs1291519904, GJB2

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
98 0.925 0.120 13 20189325 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.800 1.000 12 1998 2016
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.925 0.120 13 20189325 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018