Source: BEFREE

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: rs2075575
rs2075575
AQP4 ; AQP4-AS1
0.851 0.200 18 26866562 intron variant G/A snv 0.31
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.020 1.000 2 2010 2014
dbSNP: rs1436904
rs1436904
CHST9 ; AQP4-AS1
0.851 0.080 18 26990703 intron variant T/G snv 0.35
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs1436904
rs1436904
CHST9 ; AQP4-AS1
0.851 0.080 18 26990703 intron variant T/G snv 0.35
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs150587304
rs150587304
AQP4 ; AQP4-AS1
1.000 0.120 18 26862573 stop gained C/A;G snv 3.2E-05; 2.9E-04
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica 		0.010 1.000 1 2011 2011
dbSNP: rs2075575
rs2075575
AQP4 ; AQP4-AS1
0.851 0.200 18 26866562 intron variant G/A snv 0.31
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2015 2015
dbSNP: rs2075575
rs2075575
AQP4 ; AQP4-AS1
0.851 0.200 18 26866562 intron variant G/A snv 0.31
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica 		0.010 1.000 1 2016 2016
dbSNP: rs2075575
rs2075575
AQP4 ; AQP4-AS1
0.851 0.200 18 26866562 intron variant G/A snv 0.31
CUI: C0025281
Disease: Meniere Disease
Meniere Disease 		0.010 1.000 1 2013 2013
dbSNP: rs2075575
rs2075575
AQP4 ; AQP4-AS1
0.851 0.200 18 26866562 intron variant G/A snv 0.31
CUI: C4275242
Disease: Sudden sensorineural hearing loss
Sudden sensorineural hearing loss 		0.010 1.000 1 2013 2013
dbSNP: rs3763040
rs3763040
AQP4 ; AQP4-AS1
0.925 0.080 18 26864410 intron variant G/A;T snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 1.000 1 2017 2017
dbSNP: rs3763040
rs3763040
AQP4 ; AQP4-AS1
0.925 0.080 18 26864410 intron variant G/A;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2017 2017
dbSNP: rs3763040
rs3763040
AQP4 ; AQP4-AS1
0.925 0.080 18 26864410 intron variant G/A;T snv
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.010 1.000 1 2017 2017
dbSNP: rs3763043
rs3763043
AQP4 ; AQP4-AS1
0.925 0.080 18 26855854 3 prime UTR variant C/T snv 0.30
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.010 1.000 1 2017 2017
dbSNP: rs3763043
rs3763043
AQP4 ; AQP4-AS1
0.925 0.080 18 26855854 3 prime UTR variant C/T snv 0.30
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2017 2017
dbSNP: rs3763043
rs3763043
AQP4 ; AQP4-AS1
0.925 0.080 18 26855854 3 prime UTR variant C/T snv 0.30
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 1.000 1 2017 2017
dbSNP: rs3875089
rs3875089
AQP4 ; AQP4-AS1
0.925 0.080 18 26865469 intron variant T/C snv 0.19
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2017 2017
dbSNP: rs3875089
rs3875089
AQP4 ; AQP4-AS1
0.925 0.080 18 26865469 intron variant T/C snv 0.19
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 1.000 1 2017 2017
dbSNP: rs3875089
rs3875089
AQP4 ; AQP4-AS1
0.925 0.080 18 26865469 intron variant T/C snv 0.19
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.010 1.000 1 2017 2017
dbSNP: rs3906956
rs3906956
AQP4 ; AQP4-AS1
1.000 0.040 18 26856350 missense variant A/G snv
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.010 1.000 1 2014 2014
dbSNP: rs527616
rs527616
AQP4-AS1
0.851 0.080 18 26757460 intron variant C/G snv 0.71
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs527616
rs527616
AQP4-AS1
0.851 0.080 18 26757460 intron variant C/G snv 0.71
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs528732638
rs528732638
CHST9 ; AQP4-AS1
0.851 0.120 18 26940224 intron variant A/-;AA;AAA;AAAA delins
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.010 1.000 1 2018 2018
dbSNP: rs528732638
rs528732638
CHST9 ; AQP4-AS1
0.851 0.120 18 26940224 intron variant A/-;AA;AAA;AAAA delins
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.010 1.000 1 2018 2018
dbSNP: rs528732638
rs528732638
CHST9 ; AQP4-AS1
0.851 0.120 18 26940224 intron variant A/-;AA;AAA;AAAA delins
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.010 1.000 1 2018 2018
dbSNP: rs72878794
rs72878794
AQP4 ; AQP4-AS1
1.000 0.040 18 26866839 intron variant C/A;T snv 8.1E-02
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.010 1.000 1 2017 2017
dbSNP: rs9951307
rs9951307
AQP4-AS1
0.882 0.120 18 26850565 intron variant G/A snv 0.65
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2017 2017