rs762668200, MKS1

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 0.320 17 58206543 splice acceptor variant -/C delins 6.5E-05 7.0E-06 0.700 1.000 2 2007 2007
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
105 0.882 0.320 17 58206543 splice acceptor variant -/C delins 6.5E-05 7.0E-06 0.700 1.000 2 2007 2007
Meckel syndrome type 1
CUI: C3714506
Disease: Meckel syndrome type 1
38 0.882 0.320 17 58206543 splice acceptor variant -/C delins 6.5E-05 7.0E-06 0.700 0