Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs758022116
rs758022116
RALGAPB
0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		0.700 0
dbSNP: rs758022116
rs758022116
RALGAPB
0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06
CUI: C0011848
Disease: Diabetes Insipidus
Diabetes Insipidus 		0.700 0
dbSNP: rs758022116
rs758022116
RALGAPB
0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06
CUI: C3279675
Disease: Perisylvian polymicrogyria
Perisylvian polymicrogyria 		0.700 0
dbSNP: rs758022116
rs758022116
RALGAPB
0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.700 0
dbSNP: rs758022116
rs758022116
RALGAPB
0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0
dbSNP: rs758022116
rs758022116
RALGAPB
0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		0.700 0
dbSNP: rs758022116
rs758022116
RALGAPB
0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06
CUI: C3279571
Disease: Ectopic posterior pituitary
Ectopic posterior pituitary 		0.700 0
dbSNP: rs758022116
rs758022116
RALGAPB
0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs758022116
rs758022116
RALGAPB
0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06
CUI: C0948387
Disease: Secondary Adrenal Insufficiency
Secondary Adrenal Insufficiency 		0.700 0
dbSNP: rs758022116
rs758022116
RALGAPB
0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		0.700 0
dbSNP: rs758022116
rs758022116
RALGAPB
0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		0.700 0
dbSNP: rs758022116
rs758022116
RALGAPB
0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		0.700 0
dbSNP: rs758022116
rs758022116
RALGAPB
0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		0.700 0