rs1555599412, 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.
BARDET-BIEDL SYNDROME 13
CUI: C2673873
Disease: BARDET-BIEDL SYNDROME 13
24 0.827 0.320 17 58213011 stop gained C/A snv 0.700 1.000 1 2011 2011
JOUBERT SYNDROME 28
CUI: C4310705
Disease: JOUBERT SYNDROME 28
24 0.827 0.320 17 58213011 stop gained C/A snv 0.700 1.000 1 2011 2011
Meckel syndrome type 1
CUI: C3714506
Disease: Meckel syndrome type 1
38 0.827 0.320 17 58213011 stop gained C/A snv 0.700 1.000 1 2011 2011
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
187 0.827 0.320 17 58213011 stop gained C/A snv 0.700 0
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
105 0.827 0.320 17 58213011 stop gained C/A snv 0.700 0