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.
Abnormal maternal serum screening
CUI: C4023359
Disease: Abnormal maternal serum screening
1 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
Chronic kidney disease stage 3
CUI: C2316787
Disease: Chronic kidney disease stage 3
1 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
Hallux Varus
CUI: C0546297
Disease: Hallux Varus
1 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
Pneumothorax
CUI: C0032326
Disease: Pneumothorax
3 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
Asphyxia Neonatorum
CUI: C0004045
Disease: Asphyxia Neonatorum
5 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
Hypophosphatemia
CUI: C0085682
Disease: Hypophosphatemia
5 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
Hypophosphatemic Rickets
CUI: C1704375
Disease: Hypophosphatemic Rickets
6 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
Linear atrophy
CUI: C0152459
Disease: Linear atrophy
6 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
Overfolded helix
CUI: C1837731
Disease: Overfolded helix
7 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
Induced vaginal delivery
CUI: C4072908
Disease: Induced vaginal delivery
10 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
Joint hyperflexibility
CUI: C3553764
Disease: Joint hyperflexibility
12 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
Malar flattening
CUI: C1858085
Disease: Malar flattening
12 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
Aneurysm of aortic root
CUI: C1298820
Disease: Aneurysm of aortic root
15 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
Tooth Crowding
CUI: C0040433
Disease: Tooth Crowding
19 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
Nephrocalcinosis
CUI: C0027709
Disease: Nephrocalcinosis
20 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
Hernia, Inguinal
CUI: C0019294
Disease: Hernia, Inguinal
21 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
Maternal hypertension
CUI: C0565599
Disease: Maternal hypertension
22 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
Arachnodactyly
CUI: C0003706
Disease: Arachnodactyly
25 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
Long narrow head
CUI: C0221358
Disease: Long narrow head
26 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
Neonatal respiratory distress
CUI: C4281993
Disease: Neonatal respiratory distress
34 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0