rs758022116, RALGAPB

N. diseases: 13
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.
Absence of septum pellucidum
CUI: C0431371
Disease: Absence of septum pellucidum
2 0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06 0.700 0
Central hypothyroidism
CUI: C0271801
Disease: Central hypothyroidism
3 0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06 0.700 0
Diabetes Insipidus
CUI: C0011848
Disease: Diabetes Insipidus
3 0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06 0.700 0
Ectopic posterior pituitary
CUI: C3279571
Disease: Ectopic posterior pituitary
2 0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06 0.700 0
Hypoplasia of the optic nerve
CUI: C0338502
Disease: Hypoplasia of the optic nerve
14 0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06 0.700 0
Hypsarrhythmia
CUI: C0684276
Disease: Hypsarrhythmia
7 0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06 0.700 0
Infantile Spasm
CUI: C3887898
Disease: Infantile Spasm
39 0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06 0.700 0
Perisylvian polymicrogyria
CUI: C3279675
Disease: Perisylvian polymicrogyria
3 0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06 0.700 0
Reduced visual acuity
CUI: C0234632
Disease: Reduced visual acuity
10 0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06 0.700 0
Secondary Adrenal Insufficiency
CUI: C0948387
Disease: Secondary Adrenal Insufficiency
1 0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06 0.700 0
Septo-Optic Dysplasia
CUI: C0338503
Disease: Septo-Optic Dysplasia
19 0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06 0.700 0
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06 0.700 0