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.
BRANCHIOOTIC SYNDROME 3 (disorder)
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
9 0.882 0.160 14 60648804 missense variant T/C snv 4.0E-06 0.800 1.000 6 2004 2013
DEAFNESS, AUTOSOMAL DOMINANT 23
CUI: C1854594
Disease: DEAFNESS, AUTOSOMAL DOMINANT 23
4 0.882 0.160 14 60648804 missense variant T/C snv 4.0E-06 0.700 1.000 2 2004 2009
Branchiootorenal Syndrome 1
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
24 0.882 0.160 14 60648804 missense variant T/C snv 4.0E-06 0.700 0