rs1232880706, FBN1

N. diseases: 36
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.
Pneumothorax
CUI: C0032326
Disease: Pneumothorax
3 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
Polycythemia
CUI: C0032461
Disease: Polycythemia
22 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
Premature Birth
CUI: C0151526
Disease: Premature Birth
50 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
Prominent nasal bridge
CUI: C1854113
Disease: Prominent nasal bridge
8 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
Relative macrocephaly
CUI: C1849075
Disease: Relative macrocephaly
19 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
Renal Tubular Acidosis, Type II
CUI: C0268435
Disease: Renal Tubular Acidosis, Type II
4 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
Spontaneous pneumothorax
CUI: C0149781
Disease: Spontaneous pneumothorax
6 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
Tooth Crowding
CUI: C0040433
Disease: Tooth Crowding
19 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0