rs121908096, CYP27A1

N. diseases: 10
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.
Xanthomatosis, Cerebrotendinous
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
71 0.827 0.320 2 218814186 missense variant C/A;T snv 8.0E-06; 2.9E-04 0.830 1.000 19 1991 2016
Abnormality of the cerebellum
CUI: C1866129
Disease: Abnormality of the cerebellum
11 0.827 0.320 2 218814186 missense variant C/A;T snv 8.0E-06; 2.9E-04 0.700 0
Chronic diarrhea
CUI: C0401151
Disease: Chronic diarrhea
9 0.827 0.320 2 218814186 missense variant C/A;T snv 8.0E-06; 2.9E-04 0.700 0
Congenital cataract
CUI: C0009691
Disease: Congenital cataract
104 0.827 0.320 2 218814186 missense variant C/A;T snv 8.0E-06; 2.9E-04 0.700 0
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.827 0.320 2 218814186 missense variant C/A;T snv 8.0E-06; 2.9E-04 0.700 0
Difficulty walking
CUI: C0311394
Disease: Difficulty walking
30 0.827 0.320 2 218814186 missense variant C/A;T snv 8.0E-06; 2.9E-04 0.700 0
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
415 0.827 0.320 2 218814186 missense variant C/A;T snv 8.0E-06; 2.9E-04 0.700 0
Paraparesis
CUI: C0221166
Disease: Paraparesis
5 0.827 0.320 2 218814186 missense variant C/A;T snv 8.0E-06; 2.9E-04 0.700 0
Sensory neuropathy
CUI: C0151313
Disease: Sensory neuropathy
15 0.827 0.320 2 218814186 missense variant C/A;T snv 8.0E-06; 2.9E-04 0.700 0
Spastic tetraparesis
CUI: C0575059
Disease: Spastic tetraparesis
5 0.827 0.320 2 218814186 missense variant C/A;T snv 8.0E-06; 2.9E-04 0.700 0