FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 558; N. variants: 42
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: rs121913483
rs121913483
0.734 0.250 4 1801841 missense variant C/A,G,T snp 4.2E-06; 1.3E-05 3.2E-05
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs121913485
rs121913485
0.784 0.321 4 1804372 missense variant A/G snp
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs28931615
rs28931615
0.756 0.214 4 1804426 missense variant C/A,T snp 3.2E-05
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms 0.010 1.000 1 2006 2006