rs1553827236, CC2D2A

N. diseases: 7
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.
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
44 0.882 0.200 4 15516757 splice donor variant G/A snv 0.700 0
Encephalocele
CUI: C4551722
Disease: Encephalocele
7 0.882 0.200 4 15516757 splice donor variant G/A snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.882 0.200 4 15516757 splice donor variant G/A snv 0.700 0
Narrow thorax
CUI: C0426790
Disease: Narrow thorax
18 0.882 0.200 4 15516757 splice donor variant G/A snv 0.700 0
Oligohydramnios
CUI: C0079924
Disease: Oligohydramnios
21 0.882 0.200 4 15516757 splice donor variant G/A snv 0.700 0
Polycystic Kidney Diseases
CUI: C0022680
Disease: Polycystic Kidney Diseases
54 0.882 0.200 4 15516757 splice donor variant G/A snv 0.700 0
POLYDACTYLY, POSTAXIAL
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
7 0.882 0.200 4 15516757 splice donor variant G/A snv 0.700 0