rs1034395178, LZTR1

N. diseases: 33
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 location of ears
CUI: C4021810
Disease: Abnormal location of ears
1 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
Abnormality of pelvic girdle bone morphology
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
5 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
Abnormality of the acetabulum
CUI: C4021739
Disease: Abnormality of the acetabulum
5 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
Aspiration Pneumonia
CUI: C0032290
Disease: Aspiration Pneumonia
4 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
Asthma
CUI: C0004096
Disease: Asthma
1536 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
Contractures of the joints of the lower limbs
CUI: C1859523
Disease: Contractures of the joints of the lower limbs
3 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
Dilatation of pulmonary artery, unspecified
CUI: C0428851
Disease: Dilatation of pulmonary artery, unspecified
2 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
Gestational Diabetes
CUI: C0085207
Disease: Gestational Diabetes
224 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
Hip Dysplasia
CUI: C1328407
Disease: Hip Dysplasia
16 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
Large for gestational age
CUI: C1848395
Disease: Large for gestational age
10 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
Left ventricular septal hypertrophy
CUI: C1845019
Disease: Left ventricular septal hypertrophy
1 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
Long palpebral fissure
CUI: C1849340
Disease: Long palpebral fissure
10 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
Malar flattening
CUI: C1858085
Disease: Malar flattening
12 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
Neonatal respiratory distress
CUI: C4281993
Disease: Neonatal respiratory distress
34 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
Noonan Syndrome 2
CUI: C1854469
Disease: Noonan Syndrome 2
15 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
Polyhydramnios
CUI: C0020224
Disease: Polyhydramnios
28 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
Poor suck
CUI: C1837142
Disease: Poor suck
31 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018