B9D2, B9 domain containing 2, 80776

N. diseases: 66; 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: rs750436680
rs750436680
0.925 0.160 19 41354765 missense variant C/T snv 4.0E-06
CUI: C3280036
Disease: MECKEL SYNDROME, TYPE 10
MECKEL SYNDROME, TYPE 10
0.700 1.000 1 2015 2015
dbSNP: rs757863670
rs757863670
0.925 0.160 19 41358004 missense variant A/G snv 1.2E-05
CUI: C3280036
Disease: MECKEL SYNDROME, TYPE 10
MECKEL SYNDROME, TYPE 10
0.700 1.000 1 2015 2015
dbSNP: rs1487082103
rs1487082103
0.925 0.320 19 41354927 missense variant T/G snv 8.2E-06
CUI: C3280036
Disease: MECKEL SYNDROME, TYPE 10
MECKEL SYNDROME, TYPE 10
0.700 0
dbSNP: rs863225150
rs863225150
0.925 0.160 19 41355008 missense variant G/A snv
CUI: C3280036
Disease: MECKEL SYNDROME, TYPE 10
MECKEL SYNDROME, TYPE 10
0.700 0