Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779707422
rs779707422
FGFR1
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis 		0.820 GeneticVariation UNIPROT

dbSNP: rs747842199
rs747842199
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 GeneticVariation UNIPROT

dbSNP: rs727505373
rs727505373
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 GeneticVariation UNIPROT

dbSNP: rs727505369
rs727505369
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 GeneticVariation UNIPROT

dbSNP: rs121913473
rs121913473
FGFR1
CUI: C3165106
Disease: Infiltrating duct carcinoma of female breast
Infiltrating duct carcinoma of female breast 		0.700 GeneticVariation UNIPROT

dbSNP: rs1131691929
rs1131691929
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 GeneticVariation UNIPROT

dbSNP: rs1085307879
rs1085307879
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 GeneticVariation UNIPROT

dbSNP: rs121909627
rs121909627
FGFR1
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.850 GeneticVariation UNIPROT A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. 7874169

1994
dbSNP: rs121909627
rs121909627
FGFR1
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		0.800 GeneticVariation UNIPROT Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. 10861678

2000
dbSNP: rs121909633
rs121909633
FGFR1
CUI: C0432122
Disease: Interfrontal craniofaciosynostosis
Interfrontal craniofaciosynostosis 		0.700 GeneticVariation UNIPROT An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly. 11173846

2000
dbSNP: rs1554570706
rs1554570706
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230

2003
dbSNP: rs121909645
rs121909645
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230

2003
dbSNP: rs121909644
rs121909644
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230

2003
dbSNP: rs121909641
rs121909641
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230

2003
dbSNP: rs121909640
rs121909640
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230

2003
dbSNP: rs121909637
rs121909637
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230

2003
dbSNP: rs121909635
rs121909635
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230

2003
dbSNP: rs121909628
rs121909628
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230

2003
dbSNP: rs886037634
rs886037634
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 GeneticVariation UNIPROT Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230

2003
dbSNP: rs781328162
rs781328162
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 GeneticVariation UNIPROT Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230

2003
dbSNP: rs780765366
rs780765366
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 GeneticVariation UNIPROT Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230

2003
dbSNP: rs768957161
rs768957161
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 GeneticVariation UNIPROT Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230

2003
dbSNP: rs765615419
rs765615419
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 GeneticVariation UNIPROT Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230

2003
dbSNP: rs760884357
rs760884357
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 GeneticVariation UNIPROT Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230

2003
dbSNP: rs749758370
rs749758370
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 GeneticVariation UNIPROT Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230

2003