rs878853160, CDK13

N. diseases: 5
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.
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
CUI: C4479246
Disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
8 0.882 0.120 7 40046007 missense variant A/G snv 0.800 1.000 2 2016 2017
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.882 0.120 7 40046007 missense variant A/G snv 0.700 1.000 9 2009 2018
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.882 0.120 7 40046007 missense variant A/G snv 0.700 1.000 9 2009 2018
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.882 0.120 7 40046007 missense variant A/G snv 0.700 1.000 9 2009 2018
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.882 0.120 7 40046007 missense variant A/G snv 0.700 0