Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs180177041
rs180177041
BRAF
0.851 0.240 7 140777006 missense variant C/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 1968 2013
dbSNP: rs180177041
rs180177041
BRAF
0.851 0.240 7 140777006 missense variant C/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 8 1968 2013
dbSNP: rs180177041
rs180177041
BRAF
0.851 0.240 7 140777006 missense variant C/G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 3 2006 2008
dbSNP: rs180177041
rs180177041
BRAF
0.851 0.240 7 140777006 missense variant C/G snv
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		0.700 0
dbSNP: rs180177041
rs180177041
BRAF
0.851 0.240 7 140777006 missense variant C/G snv
CUI: C1847874
Disease: PHACE association
PHACE association 		0.700 0