rs786205508, MKS1

N. diseases: 5
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.
Cleft palate, isolated
CUI: C1837218
Disease: Cleft palate, isolated
70 0.851 0.200 17 58208542 stop gained G/A snv 0.700 0
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
105 0.851 0.200 17 58208542 stop gained G/A snv 0.700 0
Occipital Encephalocele
CUI: C0014067
Disease: Occipital Encephalocele
9 0.851 0.200 17 58208542 stop gained G/A snv 0.700 0
Polycystic Kidney Diseases
CUI: C0022680
Disease: Polycystic Kidney Diseases
54 0.851 0.200 17 58208542 stop gained G/A snv 0.700 0
Polydactyly
CUI: C0152427
Disease: Polydactyly
43 0.851 0.200 17 58208542 stop gained G/A snv 0.700 0