Source: ALL

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: rs745389246
rs745389246
AKAP6
1.000 0.080 14 32823328 missense variant C/A snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs8020364
rs8020364
AKAP6
1.000 0.080 14 32349835 intron variant T/C snv 0.38
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		0.700 1.000 1 2009 2009
dbSNP: rs17441370
rs17441370
AKAP6
1.000 0.080 14 32775908 intron variant C/A;T snv
CUI: C0004096
Disease: Asthma
Asthma 		0.700 1.000 1 2012 2012
dbSNP: rs2300835
rs2300835
AKAP6
14 32738316 intron variant C/A snv 0.16
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2012 2012
dbSNP: rs2300835
rs2300835
AKAP6
14 32738316 intron variant C/A snv 0.16
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		0.700 1.000 1 2012 2012
dbSNP: rs2300835
rs2300835
AKAP6
14 32738316 intron variant C/A snv 0.16
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		0.700 1.000 1 2012 2012
dbSNP: rs12883788
rs12883788
AKAP6
1.000 0.040 14 32834334 3 prime UTR variant C/A;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 1.000 1 2015 2015
dbSNP: rs17522122
rs17522122
AKAP6
0.925 0.040 14 32833676 3 prime UTR variant G/T snv 0.41
CUI: C0021704
Disease: Intelligence
Intelligence 		0.700 1.000 1 2015 2015
dbSNP: rs11850550
rs11850550
AKAP6
1.000 0.040 14 32668014 intron variant G/C;T snv
CUI: C1863416
Disease: Autosomal dominant compelling helio ophthalmic outburst syndrome
Autosomal dominant compelling helio ophthalmic outburst syndrome 		0.700 1.000 1 2016 2016
dbSNP: rs10131032
rs10131032
AKAP6
1.000 0.040 14 32780875 intron variant G/A snv 9.3E-02
CUI: C0017638
Disease: Glioma
Glioma 		0.700 1.000 1 2017 2017
dbSNP: rs10131032
rs10131032
AKAP6
1.000 0.040 14 32780875 intron variant G/A snv 9.3E-02
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		0.700 1.000 1 2017 2017
dbSNP: rs12895330
rs12895330
AKAP6
14 32836137 3 prime UTR variant G/C snv 0.40
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs17522122
rs17522122
AKAP6
0.925 0.040 14 32833676 3 prime UTR variant G/T snv 0.41
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs1957021
rs1957021
AKAP6
1.000 0.080 14 32455299 intron variant T/A;C snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.700 1.000 2 2018 2018
dbSNP: rs7146202
rs7146202
AKAP6
14 32834311 3 prime UTR variant A/G snv 0.46
CUI: C0021704
Disease: Intelligence
Intelligence 		0.700 1.000 2 2018 2018
dbSNP: rs10133551
rs10133551
AKAP6
14 32813026 intron variant T/C snv 0.30
CUI: C0021704
Disease: Intelligence
Intelligence 		0.700 1.000 1 2018 2018
dbSNP: rs1051695
rs1051695
AKAP6
14 32823916 missense variant A/G snv 0.59 0.64
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2018 2018
dbSNP: rs11156751
rs11156751
AKAP6
1.000 0.080 14 32521231 intron variant T/C snv 0.27
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.700 1.000 1 2018 2018
dbSNP: rs1279143
rs1279143
AKAP6
14 32705894 intron variant A/G snv 0.41
CUI: C0201973
Disease: Creatine kinase measurement
Creatine kinase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1955513
rs1955513
AKAP6
0.925 0.120 14 32706736 intron variant T/G snv 0.11
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		0.010 1.000 1 2018 2018
dbSNP: rs1955513
rs1955513
AKAP6
0.925 0.120 14 32706736 intron variant T/G snv 0.11
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 1.000 1 2018 2018
dbSNP: rs2007669
rs2007669
AKAP6
14 32819801 intron variant A/C;T snv
CUI: C0021704
Disease: Intelligence
Intelligence 		0.700 1.000 1 2018 2018
dbSNP: rs2145587
rs2145587
AKAP6
1.000 0.080 14 32512278 intron variant G/A snv 0.25
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.700 1.000 1 2018 2018
dbSNP: rs2239647
rs2239647
AKAP6
0.851 0.080 14 32823537 synonymous variant A/C snv 0.60 0.65
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs3784169
rs3784169
AKAP6
0.925 0.040 14 32333549 intron variant T/C snv 6.3E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.700 1.000 1 2018 2018