Source: CURATED

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: rs28931615
rs28931615
FGFR3
0.732 0.240 4 1804426 missense variant C/A;T snv
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.870 1.000 6 1995 2019
dbSNP: rs28931615
rs28931615
FGFR3
0.732 0.240 4 1804426 missense variant C/A;T snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 1.000 7 1995 2013
dbSNP: rs28931615
rs28931615
FGFR3
0.732 0.240 4 1804426 missense variant C/A;T snv
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.700 1.000 1 2009 2009