rs121434341, CHD7

N. diseases: 10
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
CHARGE Syndrome
CUI: C0265354
Disease: CHARGE Syndrome
205 0.807 0.360 8 60855993 missense variant C/A;T snv 0.810 1.000 16 2004 2015
Abnormality of the larynx
CUI: C4021777
Disease: Abnormality of the larynx
1 0.807 0.360 8 60855993 missense variant C/A;T snv 0.700 0
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.807 0.360 8 60855993 missense variant C/A;T snv 0.700 0
Choanal Atresia
CUI: C0008297
Disease: Choanal Atresia
7 0.807 0.360 8 60855993 missense variant C/A;T snv 0.700 0
Cupped ears (finding)
CUI: C1845447
Disease: Cupped ears (finding)
7 0.807 0.360 8 60855993 missense variant C/A;T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.807 0.360 8 60855993 missense variant C/A;T snv 0.700 0
Hip Dysplasia
CUI: C1328407
Disease: Hip Dysplasia
16 0.807 0.360 8 60855993 missense variant C/A;T snv 0.700 0
Morphological abnormality of the semicircular canal
CUI: C4023386
Disease: Morphological abnormality of the semicircular canal
2 0.807 0.360 8 60855993 missense variant C/A;T snv 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.807 0.360 8 60855993 missense variant C/A;T snv 0.700 0
Anastomosis
CUI: C0332853
Disease: Anastomosis
2 0.807 0.360 8 60855993 missense variant C/A;T snv 0.010 1.000 1 2008 2008