Gene: FGFR1 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515481
rs397515481
FGFR1
0.800 GeneticVariation UNIPROT Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism. 24888332

2014
dbSNP: rs398122945
rs398122945
FGFR1
0.800 GeneticVariation UNIPROT Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism. 24888332

2014
dbSNP: rs398122946
rs398122946
FGFR1
0.800 GeneticVariation UNIPROT Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism. 24888332

2014
dbSNP: rs869025669
rs869025669
FGFR1
0.800 GeneticVariation UNIPROT Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism. 24888332

2014
dbSNP: rs869025670
rs869025670
FGFR1
0.800 GeneticVariation UNIPROT Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism. 24888332

2014
dbSNP: rs869025671
rs869025671
FGFR1
0.800 GeneticVariation UNIPROT Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism. 24888332

2014
dbSNP: rs869025672
rs869025672
FGFR1
0.800 GeneticVariation UNIPROT Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism. 24888332

2014
dbSNP: rs397515481
rs397515481
FGFR1
0.800 GeneticVariation UNIPROT FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. 23812909

2013
dbSNP: rs398122945
rs398122945
FGFR1
0.800 GeneticVariation UNIPROT FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. 23812909

2013
dbSNP: rs398122946
rs398122946
FGFR1
0.800 GeneticVariation UNIPROT FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. 23812909

2013
dbSNP: rs869025669
rs869025669
FGFR1
0.800 GeneticVariation UNIPROT FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. 23812909

2013
dbSNP: rs869025670
rs869025670
FGFR1
0.800 GeneticVariation UNIPROT FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. 23812909

2013
dbSNP: rs869025671
rs869025671
FGFR1
0.800 GeneticVariation UNIPROT FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. 23812909

2013
dbSNP: rs869025672
rs869025672
FGFR1
0.800 GeneticVariation UNIPROT FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. 23812909

2013