rs796052243, SPATA5

N. diseases: 54
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.
Immunoglobulin G subclass deficiency (finding)
CUI: C4520847
Disease: Immunoglobulin G subclass deficiency (finding)
1 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Induced vaginal delivery
CUI: C4072908
Disease: Induced vaginal delivery
10 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Infantile Spasm
CUI: C3887898
Disease: Infantile Spasm
39 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Labial hypoplasia
CUI: C1850325
Disease: Labial hypoplasia
1 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Long face
CUI: C1836047
Disease: Long face
12 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Low anterior hairline
CUI: C1842366
Disease: Low anterior hairline
17 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Medial flaring of the eyebrow
CUI: C1844562
Disease: Medial flaring of the eyebrow
2 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Minimal subcutaneous fat
CUI: C1859442
Disease: Minimal subcutaneous fat
1 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Narrow thorax
CUI: C0426790
Disease: Narrow thorax
18 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Open mouth (finding)
CUI: C0240379
Disease: Open mouth (finding)
11 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Recurrent infections
CUI: C0239998
Disease: Recurrent infections
14 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Reduced fetal movement
CUI: C0235659
Disease: Reduced fetal movement
17 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Reduced tendon reflexes
CUI: C1866934
Disease: Reduced tendon reflexes
8 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Retinal depigmentation
CUI: C0151891
Disease: Retinal depigmentation
5 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Short neck
CUI: C0521525
Disease: Short neck
29 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
74 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Stereotypic Movement Disorder
CUI: C0038273
Disease: Stereotypic Movement Disorder
26 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Stereotypical hand wringing
CUI: C4023014
Disease: Stereotypical hand wringing
5 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Tapering fingers (finding)
CUI: C0426886
Disease: Tapering fingers (finding)
19 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Temperature instability
CUI: C1820737
Disease: Temperature instability
8 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Thick hair
CUI: C4073184
Disease: Thick hair
3 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0