FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 60; N. variants: 39
Source: CLINVAR ×
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: rs78311289
rs78311289
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.730 1.000 0 2000 2011
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2016 2016