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: rs2802723
rs2802723
0.925 0.080 1 243335010 intron variant T/C;G snv
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2802723
rs2802723
0.925 0.080 1 243335010 intron variant T/C;G snv
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs10803138
rs10803138
1.000 0.040 1 243391917 intron variant A/G snv 0.77
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.700 1.000 3 2017 2019
dbSNP: rs12042959
rs12042959
1 243369971 intron variant A/G;T snv
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 2 2019 2019
dbSNP: rs2802729
rs2802729
1 243338461 intron variant C/A;G;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.700 1.000 2 2016 2019
dbSNP: rs397515337
rs397515337
0.925 1 243305133 missense variant C/T snv 1.2E-04 6.3E-05
CUI: C3889474
Disease: BARDET-BIEDL SYNDROME 16
BARDET-BIEDL SYNDROME 16
0.700 1.000 2 2010 2011
dbSNP: rs397515337
rs397515337
0.925 1 243305133 missense variant C/T snv 1.2E-04 6.3E-05
CUI: C3150877
Disease: SENIOR-LOKEN SYNDROME 7
SENIOR-LOKEN SYNDROME 7
0.700 1.000 2 2010 2011
dbSNP: rs77149735
rs77149735
1.000 0.040 1 243391803 intron variant G/A snv 2.0E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.700 1.000 2 2014 2015
dbSNP: rs10158537
rs10158537
1 243324884 intron variant C/G;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.700 1.000 1 2019 2019
dbSNP: rs10803130
rs10803130
1 243258102 intron variant A/G snv 0.43
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs10926991
rs10926991
1 243329265 intron variant A/G snv 0.30
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
0.700 1.000 1 2019 2019
dbSNP: rs12042959
rs12042959
1 243369971 intron variant A/G;T snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs12093576
rs12093576
1 243492595 intron variant C/T snv 0.47
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs12741781
rs12741781
1 243264850 intron variant T/G snv 0.29
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs12748751
rs12748751
1 243477579 intron variant A/G snv 0.51
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs2256126
rs2256126
1.000 0.040 1 243340806 intron variant A/G snv 0.27
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs2256126
rs2256126
1.000 0.040 1 243340806 intron variant A/G snv 0.27
CUI: C0021704
Disease: Intelligence
Intelligence
Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs2490391
rs2490391
1.000 0.080 1 243306367 3 prime UTR variant A/C snv 0.50
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2490391
rs2490391
1.000 0.080 1 243306367 3 prime UTR variant A/C snv 0.50
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.700 1.000 1 2019 2019
dbSNP: rs2490395
rs2490395
1 243295620 intron variant A/G snv 0.48
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs2802729
rs2802729
1 243338461 intron variant C/A;G;T snv
Creatinine measurement, serum (procedure)
0.700 1.000 1 2016 2016
dbSNP: rs28599724
rs28599724
1 243267516 intron variant C/G;T snv
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs3006917
rs3006917
1 243478669 intron variant C/T snv 0.21
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 1.000 1 2019 2019
dbSNP: rs34770086
rs34770086
1 243503393 3 prime UTR variant CT/- delins 0.29
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2017 2017
dbSNP: rs3818802
rs3818802
1.000 0.040 1 243286579 intron variant G/A snv 0.43
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.700 1.000 1 2015 2015