rs1294950721, JAG1

N. diseases: 27
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 delivery
CUI: C0549629
Disease: Abnormal delivery
37 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
Alagille Syndrome 1
CUI: C1956125
Disease: Alagille Syndrome 1
48 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
Asthma
CUI: C0004096
Disease: Asthma
1536 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
Bilateral vocal cord paralysis
CUI: C2146481
Disease: Bilateral vocal cord paralysis
2 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
Diplopia
CUI: C0012569
Disease: Diplopia
5 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
Dyspnea
CUI: C0013404
Disease: Dyspnea
26 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
Easy fatigability
CUI: C1837098
Disease: Easy fatigability
5 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
Hypotension, Orthostatic
CUI: C0020651
Disease: Hypotension, Orthostatic
21 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
Increased muscle fatiguability
CUI: C4025573
Disease: Increased muscle fatiguability
3 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
Muscular fasciculation
CUI: C0015644
Disease: Muscular fasciculation
2 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
Myokymia
CUI: C0684219
Disease: Myokymia
2 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
Neonatal respiratory distress
CUI: C4281993
Disease: Neonatal respiratory distress
34 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
Poor head control
CUI: C1836038
Disease: Poor head control
13 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
Progressive forgetfulness
CUI: C3277688
Disease: Progressive forgetfulness
1 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
Progressive muscle weakness
CUI: C0240421
Disease: Progressive muscle weakness
15 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
Reduced tendon reflexes
CUI: C1866934
Disease: Reduced tendon reflexes
8 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
Respiratory Depression
CUI: C0235063
Disease: Respiratory Depression
5 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
Restrictive cardiomyopathy
CUI: C0007196
Disease: Restrictive cardiomyopathy
30 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
Secondary Caesarian section
CUI: C4072904
Disease: Secondary Caesarian section
13 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
Short distal phalanx of finger
CUI: C1839829
Disease: Short distal phalanx of finger
3 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
Short palm
CUI: C1843108
Disease: Short palm
13 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
Short philtrum
CUI: C1861324
Disease: Short philtrum
25 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
Small hand
CUI: C0575802
Disease: Small hand
31 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0