rs863225208, MKS1

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.
Meckel syndrome type 1
CUI: C3714506
Disease: Meckel syndrome type 1
38 0.925 0.320 17 58210988 missense variant C/T snv 0.700 1.000 3 2006 2016
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
187 0.925 0.320 17 58210988 missense variant C/T snv 0.700 1.000 1 2015 2015