rs180177041, BRAF

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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.851 0.240 7 140777006 missense variant C/G snv 0.700 1.000 8 1968 2013
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.851 0.240 7 140777006 missense variant C/G snv 0.700 1.000 8 1968 2013
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
82 0.851 0.240 7 140777006 missense variant C/G snv 0.700 1.000 3 2006 2008
PHACE association
CUI: C1847874
Disease: PHACE association
1 0.851 0.240 7 140777006 missense variant C/G snv 0.700 0
Tethered Cord Syndrome
CUI: C0080218
Disease: Tethered Cord Syndrome
2 0.851 0.240 7 140777006 missense variant C/G snv 0.700 0