rs1376664664, 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.
BARDET-BIEDL SYNDROME 13
CUI: C2673873
Disease: BARDET-BIEDL SYNDROME 13
24 0.882 0.320 17 58214739 splice donor variant A/C;G snv 4.1E-06 0.700 0
JOUBERT SYNDROME 28
CUI: C4310705
Disease: JOUBERT SYNDROME 28
24 0.882 0.320 17 58214739 splice donor variant A/C;G snv 4.1E-06 0.700 0
Meckel syndrome type 1
CUI: C3714506
Disease: Meckel syndrome type 1
38 0.882 0.320 17 58214739 splice donor variant A/C;G snv 4.1E-06 0.700 0