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: rs397515476
rs397515476 		1.000 0.080 1 111981673 missense variant T/C;G snv
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 4 2010 2018
dbSNP: rs797045634
rs797045634 		1.000 0.080 1 111981693 missense variant C/A snv
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 4 2010 2018
dbSNP: rs150401343
rs150401343 		0.925 0.080 1 111780713 missense variant G/A snv 1.3E-04 7.0E-05
CUI: C4225340
Disease: BRUGADA SYNDROME 9
BRUGADA SYNDROME 9 		0.800 1.000 2 2011 2012
dbSNP: rs12044963
rs12044963 		1.000 0.080 1 111849738 intron variant G/T snv 0.10
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		0.800 1.000 1 2012 2012
dbSNP: rs786205867
rs786205867 		0.882 0.080 1 111787039 missense variant C/T snv
CUI: C4225340
Disease: BRUGADA SYNDROME 9
BRUGADA SYNDROME 9 		0.800 0
dbSNP: rs397515477
rs397515477 		1.000 0.080 1 111787094 missense variant C/T snv
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 2012 2018
dbSNP: rs397515478
rs397515478 		1.000 0.080 1 111787044 missense variant C/T snv
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 2012 2018
dbSNP: rs12044963
rs12044963 		1.000 0.080 1 111849738 intron variant G/T snv 0.10
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 2 2017 2018
dbSNP: rs12033257
rs12033257 		1 111775862 3 prime UTR variant A/G snv 0.39
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1443926
rs1443926 		1.000 0.080 1 111919280 intron variant A/G snv 0.26
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1545300
rs1545300 		1.000 0.080 1 111921382 intron variant C/T snv 0.25
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2365669
rs2365669 		1 111820023 intron variant G/A snv 0.48
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs2618039
rs2618039 		1 111781489 intron variant A/T snv 0.51
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs2788612
rs2788612 		1.000 0.080 1 111873741 intron variant T/C snv 0.96
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2798334
rs2798334 		1 111894722 intron variant T/C;G snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2012 2012
dbSNP: rs2798334
rs2798334 		1 111894722 intron variant T/C;G snv
CUI: C0429021
Disease: P wave duration (observable entity)
P wave duration (observable entity) 		0.700 1.000 1 2014 2014
dbSNP: rs75013985
rs75013985 		1 111987808 intron variant A/G snv 6.6E-03
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.700 1.000 1 2019 2019
dbSNP: rs1057519453
rs1057519453 		1.000 0.080 1 111787060 missense variant A/G snv
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1057521793
rs1057521793 		1.000 0.080 1 111787102 missense variant C/T snv
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1349469134
rs1349469134 		1.000 0.080 1 111982447 missense variant C/T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs397515475
rs397515475 		1.000 0.080 1 111982045 inframe deletion AAG/- delins
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1178561476
rs1178561476 		1.000 0.040 1 111777204 missense variant A/G snv
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2012 2012
dbSNP: rs149344567
rs149344567 		0.925 0.120 1 111776247 missense variant C/T snv 6.4E-05 5.6E-05
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2012 2012
dbSNP: rs149344567
rs149344567 		0.925 0.120 1 111776247 missense variant C/T snv 6.4E-05 5.6E-05
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs150401343
rs150401343 		0.925 0.080 1 111780713 missense variant G/A snv 1.3E-04 7.0E-05
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2015 2015