Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1444167285
rs1444167285
FGFR1
0.010 GeneticVariation BEFREE Here, exome sequencing analysis in a 12-year-old boy with HS disclosed a novel de novo heterozygous variant c.1934C>T in FGFR1 predicted to cause the p.(Ala645Val) amino-acid substitution. 30787447

2019
dbSNP: rs121909641
rs121909641
FGFR1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554548253
rs1554548253
FGFR1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554551657
rs1554551657
FGFR1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554551667
rs1554551667
FGFR1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1563433902
rs1563433902
FGFR1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1563436265
rs1563436265
FGFR1
G 0.700 CausalMutation CLINVAR

dbSNP: rs515726224
rs515726224
FGFR1
T 0.700 CausalMutation CLINVAR

dbSNP: rs780009859
rs780009859
FGFR1
C 0.700 CausalMutation CLINVAR

dbSNP: rs876661332
rs876661332
FGFR1
A 0.700 GeneticVariation CLINVAR

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
G 0.800 CausalMutation CLINVAR 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
G 0.800 CausalMutation CLINVAR FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. 23812909

2013
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: rs398122945
rs398122945
FGFR1
T 0.800 CausalMutation CLINVAR FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. 23812909

2013
dbSNP: rs398122946
rs398122946
FGFR1
A 0.800 CausalMutation CLINVAR 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
G 0.800 CausalMutation CLINVAR FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. 23812909

2013