rs886039803, 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.
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
105 0.925 0.120 17 58216664 splice donor variant A/T snv 0.700 0
Polycystic Kidney Diseases
CUI: C0022680
Disease: Polycystic Kidney Diseases
54 0.925 0.120 17 58216664 splice donor variant A/T snv 0.700 0
Polydactyly
CUI: C0152427
Disease: Polydactyly
43 0.925 0.120 17 58216664 splice donor variant A/T snv 0.700 0