rs143149764, B9D1

N. diseases: 3
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 0.882 0.200 17 19347782 splice donor variant A/G snv 2.8E-05 9.1E-05 0.700 1.000 1 2011 2011
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
105 0.882 0.200 17 19347782 splice donor variant A/G snv 2.8E-05 9.1E-05 0.700 1.000 1 2011 2011
MECKEL SYNDROME, TYPE 9
CUI: C3280155
Disease: MECKEL SYNDROME, TYPE 9
1 0.882 0.200 17 19347782 splice donor variant A/G snv 2.8E-05 9.1E-05 0.700 0