rs539612316, ALMS1

N. diseases: 4
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.
Alstrom Syndrome
CUI: C0268425
Disease: Alstrom Syndrome
179 0.925 0.120 2 73449346 stop gained T/A snv 2.0E-05 1.4E-05 0.700 1.000 1 2018 2018
Blindness
CUI: C0456909
Disease: Blindness
34 0.925 0.120 2 73449346 stop gained T/A snv 2.0E-05 1.4E-05 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 0.120 2 73449346 stop gained T/A snv 2.0E-05 1.4E-05 0.700 0
Truncal obesity
CUI: C4551560
Disease: Truncal obesity
4 0.925 0.120 2 73449346 stop gained T/A snv 2.0E-05 1.4E-05 0.700 0