NBAS, NBAS subunit of NRZ tethering complex, 51594

N. diseases: 123; N. variants: 22
Source: ALL
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: rs369698072
rs369698072
0.925 0.040 2 15238670 missense variant C/A;T snv 2.8E-05
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
0.820 1.000 2 2010 2017
dbSNP: rs368196005
rs368196005
1.000 2 15417582 missense variant A/C snv 8.0E-06
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2
0.810 1.000 2 2015 2019
dbSNP: rs796052121
rs796052121
0.925 2 15394320 missense variant A/G snv
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2
0.800 0
dbSNP: rs10929355
rs10929355
1.000 0.040 2 15258840 intron variant T/G snv 0.56
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs140841721
rs140841721
1.000 2 15402288 missense variant A/C;G snv 1.2E-05; 1.1E-04
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2
0.700 1.000 1 2015 2015
dbSNP: rs1430797
rs1430797
0.925 0.040 2 15032425 regulatory region variant T/C snv 0.80
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 1.000 1 2018 2018
dbSNP: rs1430797
rs1430797
0.925 0.040 2 15032425 regulatory region variant T/C snv 0.80
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2033354
rs2033354
1.000 0.080 2 15076492 intergenic variant T/C snv 0.30
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive
Respiratory Tract Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2111449
rs2111449
2 15476091 intron variant C/T snv 0.67
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs368085185
rs368085185
1.000 2 15539327 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
Mental Disorders 0.700 1.000 1 2015 2015
dbSNP: rs368085185
rs368085185
1.000 2 15539327 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2
0.700 1.000 1 2015 2015
dbSNP: rs748880753
rs748880753
1.000 2 15534609 missense variant T/C;G snv 8.0E-06
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2
0.700 1.000 1 2017 2017
dbSNP: rs770446752
rs770446752
1.000 2 15468510 stop gained C/A;T snv 1.6E-05
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2
0.700 1.000 1 2017 2017
dbSNP: rs796052121
rs796052121
0.925 2 15394320 missense variant A/G snv
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
0.700 1.000 1 2015 2015
dbSNP: rs9287655
rs9287655
1.000 0.080 2 15245360 intron variant C/T snv 0.45
CUI: C0524909
Disease: Hepatitis B, Chronic
Hepatitis B, Chronic
Digestive System Diseases; Infections 0.700 1.000 1 2019 2019
dbSNP: rs1085307944
rs1085307944
1.000 2 15424368 missense variant C/A snv 8.0E-06 1.4E-05
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2
0.700 0
dbSNP: rs1131692171
rs1131692171
1.000 2 15536479 stop gained G/A snv 4.0E-06 1.4E-05
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
0.700 0
dbSNP: rs143212851
rs143212851
1.000 2 15467670 missense variant A/C snv 7.6E-05 1.7E-04
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
0.700 0
dbSNP: rs759315662
rs759315662
1.000 2 15534602 frameshift variant -/A delins 3.5E-04 3.8E-04
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2
0.700 0
dbSNP: rs759960319
rs759960319
1.000 2 15474165 stop gained G/A;C snv 1.6E-05; 4.0E-06
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2
0.700 0
dbSNP: rs776597537
rs776597537
1.000 2 15178988 splice region variant C/G;T snv 4.0E-06
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2
0.700 0
dbSNP: rs796065037
rs796065037
1.000 2 15536505 inframe deletion TCA/- delins
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2
0.700 0
dbSNP: rs796065038
rs796065038
1.000 2 15536460 inframe deletion GAG/- delins 7.0E-06
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2
0.700 0
dbSNP: rs1310897090
rs1310897090
1.000 2 15467394 stop gained G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.010 1.000 1 2017 2017
dbSNP: rs1310897090
rs1310897090
1.000 2 15467394 stop gained G/A snv
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
Mental Disorders 0.010 1.000 1 2017 2017