DLG5, discs large MAGUK scaffold protein 5, 9231

N. diseases: 36; N. variants: 13
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1248634
rs1248634
1.000 10 77819464 splice region variant G/A snv 0.29 0.24
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 1.000 1 2009 2009
dbSNP: rs1248696
rs1248696
0.807 0.080 10 77856847 missense variant T/A;C snv 0.93
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 1.000 1 2009 2009