Disease: BRANCHIOOTIC SYNDROME 1 ×
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: 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: 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: 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: rs191838840
rs191838840 		1.000 0.040 8 71299149 missense variant T/C snv 1.6E-05 2.1E-05
CUI: C1865143
Disease: BRANCHIOOTIC SYNDROME 1
BRANCHIOOTIC SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs397517920
rs397517920 		0.882 0.040 8 71199371 missense variant A/G snv
CUI: C1865143
Disease: BRANCHIOOTIC SYNDROME 1
BRANCHIOOTIC SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs606231356
rs606231356 		1.000 0.040 8 71215477 frameshift variant GTTGTTA/- delins
CUI: C1865143
Disease: BRANCHIOOTIC SYNDROME 1
BRANCHIOOTIC SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
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