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: rs121909574
rs121909574
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.810 1.000 3 2008 2015
dbSNP: rs121909575
rs121909575
1.000 0.040 6 10402590 missense variant C/T snv
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 1 2008 2008
dbSNP: rs151344528
rs151344528
1.000 0.040 6 10404512 missense variant G/A;C snv 4.5E-06
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 1 2008 2008
dbSNP: rs151344531
rs151344531
0.925 0.120 6 10402608 missense variant G/A snv
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.710 1.000 1 2012 2012
dbSNP: rs793888540
rs793888540
0.851 0.080 6 10404623 missense variant G/T snv
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2015 2015
dbSNP: rs793888541
rs793888541
0.807 0.120 6 10404631 missense variant A/T snv
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2015 2015
dbSNP: rs151344525
rs151344525
0.925 0.040 6 10404562 missense variant C/G;T snv
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs151344530
rs151344530
0.925 0.040 6 10404511 missense variant C/G;T snv
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554110673
rs1554110673
1.000 0.040 6 10398417 stop lost T/C snv
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554110994
rs1554110994
1.000 0.040 6 10400584 missense variant C/G snv
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554111717
rs1554111717
1.000 0.040 6 10404523 missense variant C/T snv
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554111734
rs1554111734
1.000 0.040 6 10404559 missense variant A/G snv
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554111749
rs1554111749
1.000 0.040 6 10404566 missense variant G/A snv
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554111751
rs1554111751
1.000 0.040 6 10404575 missense variant C/T snv
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554112492
rs1554112492
1.000 0.040 6 10409973 frameshift variant -/CCGTGCA delins
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs267607108
rs267607108
1.000 0.040 6 10400587 missense variant C/T snv
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0