rs201845154, MKS1

N. diseases: 1
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 1.000 0.320 17 58214760 missense variant G/A snv 1.8E-04 3.4E-04 0.700 1.000 3 2006 2016