Source: CLINVAR

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: rs1057519793
rs1057519793
FGFR4
0.882 0.040 5 177095551 missense variant T/A snv
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		0.710 1.000 2 2009 2019
dbSNP: rs1057519792
rs1057519792
FGFR4
1.000 0.040 5 177095415 missense variant C/A;G snv
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		0.700 1.000 1 2013 2013
dbSNP: rs1057520036
rs1057520036
FGFR4
0.925 0.080 5 177093180 missense variant A/G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2010 2010
dbSNP: rs351855
rs351855
FGFR4
0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26
CUI: C4016099
Disease: CANCER PROGRESSION AND TUMOR CELL MOTILITY
CANCER PROGRESSION AND TUMOR CELL MOTILITY 		0.700 0