rs748951253, TCTN2

N. diseases: 2
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 0.925 0.200 12 123673712 frameshift variant C/-;CC delins 8.0E-06 7.0E-06 0.700 0
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
105 0.925 0.200 12 123673712 frameshift variant C/-;CC delins 8.0E-06 7.0E-06 0.700 0