FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Familial (FPAH) ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2981582
rs2981582 		0.695 0.360 10 121592803 intron variant A/G snv 0.58
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 1.000 3 2012 2016
dbSNP: rs1219648
rs1219648 		0.716 0.320 10 121586676 intron variant A/G;T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 2013 2016