rs1553553086, FARSB

N. diseases: 9
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.
Brain calcification Rajab type
CUI: C3150910
Disease: Brain calcification Rajab type
10 0.827 0.280 2 222623699 missense variant C/T snv 0.800 1.000 3 2018 2018
Abnormality of the liver
CUI: C4021780
Disease: Abnormality of the liver
8 0.827 0.280 2 222623699 missense variant C/T snv 0.700 0
Aneurysm
CUI: C0002940
Disease: Aneurysm
36 0.827 0.280 2 222623699 missense variant C/T snv 0.700 0
Cerebral calcification
CUI: C0270685
Disease: Cerebral calcification
8 0.827 0.280 2 222623699 missense variant C/T snv 0.700 0
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
189 0.827 0.280 2 222623699 missense variant C/T snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.827 0.280 2 222623699 missense variant C/T snv 0.700 0
Pneumonia, Interstitial
CUI: C0206061
Disease: Pneumonia, Interstitial
9 0.827 0.280 2 222623699 missense variant C/T snv 0.700 0
Prominent forehead
CUI: C1837260
Disease: Prominent forehead
25 0.827 0.280 2 222623699 missense variant C/T snv 0.700 0
Vesico-Ureteral Reflux
CUI: C0042580
Disease: Vesico-Ureteral Reflux
23 0.827 0.280 2 222623699 missense variant C/T snv 0.700 0