NBEA, neurobeachin, 26960

N. diseases: 5; N. variants: 9
Source: CURATED ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1777672
rs1777672 		1.000 13 35603682 intron variant G/A snv 0.94
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.800 1.000 1 2009 2009
dbSNP: rs1777672
rs1777672 		1.000 13 35603682 intron variant G/A snv 0.94
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.800 1.000 1 2009 2009
dbSNP: rs1777672
rs1777672 		1.000 13 35603682 intron variant G/A snv 0.94
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.800 1.000 1 2009 2009
dbSNP: rs1777672
rs1777672 		1.000 13 35603682 intron variant G/A snv 0.94
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.800 1.000 1 2009 2009
dbSNP: rs180940944
rs180940944 		1.000 0.120 13 35375956 intron variant C/T snv 2.1E-02
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2019 2019
dbSNP: rs869312667
rs869312667 		1.000 0.160 13 35157262 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs869312667
rs869312667 		1.000 0.160 13 35157262 missense variant C/T snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs878853169
rs878853169 		1.000 0.160 13 35550528 stop gained C/T snv
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		0.700 1.000 1 2018 2018
dbSNP: rs878853169
rs878853169 		1.000 0.160 13 35550528 stop gained C/T snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs878853169
rs878853169 		1.000 0.160 13 35550528 stop gained C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs878853169
rs878853169 		1.000 0.160 13 35550528 stop gained C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs9544156
rs9544156 		13 35376354 intron variant T/C snv 0.52
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs9544444
rs9544444 		13 35492441 intron variant G/A snv 0.26
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs9544930
rs9544930 		13 35662291 intron variant G/A snv 0.11
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs9565436
rs9565436 		13 35639494 intron variant A/C snv 0.20
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs9574095
rs9574095 		13 35530474 intron variant A/C snv 0.47
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018