rs386833760, CC2D2A

N. diseases: 11
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.
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
187 0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04 0.700 1.000 2 2009 2015
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
105 0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04 0.700 1.000 2 2009 2015
JOUBERT SYNDROME 9 (disorder)
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
50 0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04 0.700 1.000 1 2015 2015
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
44 0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04 0.700 0
Encephalocele
CUI: C4551722
Disease: Encephalocele
7 0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04 0.700 0
MECKEL SYNDROME, TYPE 6 (disorder)
CUI: C2676790
Disease: MECKEL SYNDROME, TYPE 6 (disorder)
24 0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04 0.700 0
Narrow thorax
CUI: C0426790
Disease: Narrow thorax
18 0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04 0.700 0
Oligohydramnios
CUI: C0079924
Disease: Oligohydramnios
21 0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04 0.700 0
Polycystic Kidney Diseases
CUI: C0022680
Disease: Polycystic Kidney Diseases
54 0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04 0.700 0
POLYDACTYLY, POSTAXIAL
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
7 0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04 0.700 0