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: 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: 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
dbSNP: rs1060499603
rs1060499603 		0.882 0.040 8 71211239 stop gained C/A snv
CUI: C3714941
Disease: OTOFACIOCERVICAL SYNDROME 1
OTOFACIOCERVICAL SYNDROME 1 		0.700 0
dbSNP: rs10957550
rs10957550 		8 71382353 intron variant G/A;C snv
CUI: C0023980
Disease: Longevity
Longevity 		0.700 1.000 1 2014 2014
dbSNP: rs112340154
rs112340154 		1.000 0.040 8 71215443 missense variant A/G snv
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
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: rs121909195
rs121909195 		1.000 0.040 8 71271802 stop gained G/A;C snv 4.0E-06
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
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: 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: rs121909197
rs121909197 		0.925 0.040 8 71211215 missense variant T/C snv
CUI: C4016751
Disease: ANTERIOR SEGMENT ANOMALIES AND CATARACT
ANTERIOR SEGMENT ANOMALIES AND CATARACT 		0.700 0
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: rs121909198
rs121909198 		1.000 0.040 8 71244656 missense variant C/T snv
CUI: C3152182
Disease: Anterior chamber anomalies
Anterior chamber anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
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: rs121909199
rs121909199 		0.882 0.040 8 71216776 missense variant C/T snv 1.4E-04 1.4E-05
CUI: C1865143
Disease: BRANCHIOOTIC SYNDROME 1
BRANCHIOOTIC SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2018 2018
dbSNP: rs121909199
rs121909199 		0.882 0.040 8 71216776 missense variant C/T snv 1.4E-04 1.4E-05
CUI: C4016752
Disease: BRANCHIOOTORENAL SYNDROME WITH CATARACT
BRANCHIOOTORENAL SYNDROME WITH CATARACT 		0.700 0
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: 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: rs121909202
rs121909202 		0.925 0.040 8 71244662 stop gained G/A;T snv 4.0E-06
CUI: C1865143
Disease: BRANCHIOOTIC SYNDROME 1
BRANCHIOOTIC SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
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: rs1481254965
rs1481254965 		1.000 0.040 8 71211170 stop gained G/A;C snv 4.0E-06 2.1E-05
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554541834
rs1554541834 		1.000 0.040 8 71299175 splice acceptor variant GAGCTGTTATAATACTGTGCGTACTGACCCTGGCCAAAACTGGGATAAGACGGATAGTCCTACCAAATCAAACC/- del
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0