rs1553403917, ALMS1

N. diseases: 7
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 0.807 0.320 2 73451171 frameshift variant -/A delins 0.700 1.000 1 2018 2018
Mild short stature
CUI: C3150077
Disease: Mild short stature
8 0.807 0.320 2 73451171 frameshift variant -/A delins 0.700 1.000 1 2018 2018
Obesity
CUI: C0028754
Disease: Obesity
1111 0.807 0.320 2 73451171 frameshift variant -/A delins 0.700 1.000 1 2018 2018
obsolete Rod-cone dystrophy
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
41 0.807 0.320 2 73451171 frameshift variant -/A delins 0.700 1.000 1 2018 2018
Progressive sensorineural hearing impairment
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
28 0.807 0.320 2 73451171 frameshift variant -/A delins 0.700 1.000 1 2018 2018
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.807 0.320 2 73451171 frameshift variant -/A delins 0.700 1.000 1 2018 2018
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
75 0.807 0.320 2 73451171 frameshift variant -/A delins 0.700 1.000 1 2018 2018