EXOC4, exocyst complex component 4, 60412

N. diseases: 20; N. variants: 42
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: rs730882233
rs730882233
1.000 0.040 7 133817543 missense variant A/G snv
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs768209201
rs768209201
1.000 0.080 7 133895659 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1149558
rs1149558
0.925 0.080 7 133363002 intron variant T/C;G snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1149558
rs1149558
0.925 0.080 7 133363002 intron variant T/C;G snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs11770757
rs11770757
1.000 0.080 7 134063193 intron variant G/A;C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.800 1.000 1 2014 2014
dbSNP: rs12707116
rs12707116
7 133740156 intron variant T/C snv 0.48
CUI: C0021704
Disease: Intelligence
Intelligence
Behavior and Behavior Mechanisms 0.700 1.000 3 2017 2019
dbSNP: rs1362739
rs1362739
1.000 0.040 7 133746181 intron variant C/A;T snv 0.48
CUI: C0021704
Disease: Intelligence
Intelligence
Behavior and Behavior Mechanisms 0.700 1.000 3 2017 2019
dbSNP: rs4728302
rs4728302
7 133945710 intron variant C/T snv 0.53
CUI: C0021704
Disease: Intelligence
Intelligence
Behavior and Behavior Mechanisms 0.700 1.000 3 2017 2019
dbSNP: rs6975094
rs6975094
7 133494486 intron variant G/A snv 1.00
QT interval feature (observable entity)
0.700 1.000 1 2017 2017
dbSNP: rs3823572
rs3823572
7 133995848 intron variant G/A snv 0.52
CUI: C0021704
Disease: Intelligence
Intelligence
Behavior and Behavior Mechanisms 0.700 1.000 2 2018 2019
dbSNP: rs6973256
rs6973256
7 133370849 intron variant C/T snv 0.64
CUI: C0021704
Disease: Intelligence
Intelligence
Behavior and Behavior Mechanisms 0.700 1.000 2 2018 2019
dbSNP: rs10281827
rs10281827
7 133397056 intron variant A/G;T snv
CUI: C0021704
Disease: Intelligence
Intelligence
Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs10954428
rs10954428
7 133703303 intron variant G/A snv 0.34
CUI: C0021704
Disease: Intelligence
Intelligence
Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs1149558
rs1149558
0.925 0.080 7 133363002 intron variant T/C;G snv
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs11772444
rs11772444
7 133769121 intron variant G/A snv 0.12
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs11977339
rs11977339
7 133285920 intron variant C/T snv 0.30
CUI: C0021704
Disease: Intelligence
Intelligence
Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs12707093
rs12707093
7 133516063 intron variant C/G;T snv
CUI: C0021704
Disease: Intelligence
Intelligence
Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs12707134
rs12707134
7 134045571 intron variant C/A;G;T snv
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs13243553
rs13243553
7 133822202 intron variant G/A snv 0.41
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement
0.700 1.000 1 2018 2018
dbSNP: rs17167170
rs17167170
7 133617591 intron variant A/G snv 0.21
CUI: C0021704
Disease: Intelligence
Intelligence
Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs17597230
rs17597230
7 133468245 intron variant G/A snv 1.6E-02
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs2346449
rs2346449
7 134049164 intron variant G/T snv 0.73
CUI: C0021704
Disease: Intelligence
Intelligence
Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs2971963
rs2971963
7 133956752 intron variant A/G;T snv
CUI: C0021704
Disease: Intelligence
Intelligence
Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs35284403
rs35284403
7 133264129 intron variant T/C snv 0.30
CUI: C0021704
Disease: Intelligence
Intelligence
Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs4728298
rs4728298
7 133752015 intron variant T/A snv 7.5E-04
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018