FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
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: rs121913472
rs121913472
8 38424691 missense variant G/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs121913473
rs121913473
1.000 0.080 8 38428420 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs869320694
rs869320694
0.742 0.520 8 38414790 missense variant T/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.030 1.000 3 2014 2018
dbSNP: rs779707422
rs779707422
0.763 0.280 8 38417331 missense variant G/A;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.020 1.000 2 2015 2016
dbSNP: rs1361944246
rs1361944246
8 38440361 synonymous variant C/A;T snv 9.1E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2012 2012