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: rs121909196
rs121909196
1.000 0.040 8 71216733 missense variant C/T snv
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 11 1997 2017
dbSNP: rs121909200
rs121909200
1.000 0.040 8 71215630 missense variant A/G snv 4.0E-06
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 6 1997 2011
dbSNP: rs121909201
rs121909201
1.000 0.040 8 71215470 missense variant A/C snv
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 6 1997 2011
dbSNP: rs397517920
rs397517920
0.882 0.040 8 71199371 missense variant A/G snv
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 6 1997 2011
dbSNP: rs121909199
rs121909199
0.882 0.040 8 71216776 missense variant C/T snv 1.4E-04 1.4E-05
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.710 1.000 7 1997 2018
dbSNP: rs121909202
rs121909202
0.925 0.040 8 71244662 stop gained G/A;T snv 4.0E-06
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 4 2006 2016
dbSNP: rs1131691667
rs1131691667
1.000 0.040 8 71271835 stop gained G/A snv
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 2 2000 2008
dbSNP: rs10090382
rs10090382
8 71199443 intron variant T/C snv 0.40 0.35
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs10101067
rs10101067
8 71495139 intron variant G/C snv 6.2E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2019 2019
dbSNP: rs10101067
rs10101067
8 71495139 intron variant G/C snv 6.2E-02
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs10957550
rs10957550
8 71382353 intron variant G/A;C snv
CUI: C0023980
Disease: Longevity
Longevity
0.700 1.000 1 2014 2014
dbSNP: rs121909197
rs121909197
0.925 0.040 8 71211215 missense variant T/C snv
CUI: C1865143
Disease: BRANCHIOOTIC SYNDROME 1
BRANCHIOOTIC SYNDROME 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2000 2000
dbSNP: rs121909198
rs121909198
1.000 0.040 8 71244656 missense variant C/T snv
CUI: C1865143
Disease: BRANCHIOOTIC SYNDROME 1
BRANCHIOOTIC SYNDROME 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2000 2000
dbSNP: rs12549058
rs12549058
8 71580003 intron variant T/A;G snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2015 2015
dbSNP: rs1563634200
rs1563634200
1.000 0.040 8 71216853 splice acceptor variant C/T snv
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2008 2008
dbSNP: rs28446899
rs28446899
8 71483978 intron variant C/A;T snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs4738141
rs4738141
8 71557507 intron variant A/G snv 0.41
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement
0.700 1.000 1 2017 2017
dbSNP: rs4738141
rs4738141
8 71557507 intron variant A/G snv 0.41
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2018 2018
dbSNP: rs4738141
rs4738141
8 71557507 intron variant A/G snv 0.41
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2018 2018
dbSNP: rs606231357
rs606231357
0.882 0.120 8 71271753 splice region variant C/T snv
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2017 2017
dbSNP: rs606231357
rs606231357
0.882 0.120 8 71271753 splice region variant C/T snv
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2017 2017
dbSNP: rs606231357
rs606231357
0.882 0.120 8 71271753 splice region variant C/T snv
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2017 2017
dbSNP: rs6994124
rs6994124
8 71580950 intron variant T/A;C;G snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs1060499603
rs1060499603
0.882 0.040 8 71211239 stop gained C/A snv
CUI: C1865143
Disease: BRANCHIOOTIC SYNDROME 1
BRANCHIOOTIC SYNDROME 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1060499603
rs1060499603
0.882 0.040 8 71211239 stop gained C/A snv
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0