Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853264
rs137853264
FGD1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia). 21654724

2011
dbSNP: rs28935497
rs28935497
FGD1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia). 21654724

2011
dbSNP: rs137853264
rs137853264
FGD1
0.800 GeneticVariation UNIPROT Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. 14560308

2004
dbSNP: rs28935497
rs28935497
FGD1
0.800 GeneticVariation UNIPROT Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. 14560308

2004
dbSNP: rs137853264
rs137853264
FGD1
0.800 GeneticVariation UNIPROT A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). 10930571

2000
dbSNP: rs137853264
rs137853264
FGD1
0.800 GeneticVariation UNIPROT Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. 11093277

2000
dbSNP: rs28935497
rs28935497
FGD1
0.800 GeneticVariation UNIPROT Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. 11093277

2000
dbSNP: rs28935497
rs28935497
FGD1
0.800 GeneticVariation UNIPROT A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). 10930571

2000
dbSNP: rs137853264
rs137853264
FGD1
T 0.800 CausalMutation CLINVAR

dbSNP: rs28935497
rs28935497
FGD1
T 0.800 CausalMutation CLINVAR

dbSNP: rs137853265
rs137853265
FGD1
0.710 GeneticVariation BEFREE Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). 15809997

2005
dbSNP: rs137853265
rs137853265
FGD1
T 0.710 CausalMutation CLINVAR

dbSNP: rs1269514277
rs1269514277
FGD1 ; TSR2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs137853266
rs137853266
FGD1
A 0.700 CausalMutation CLINVAR

dbSNP: rs137853267
rs137853267
FGD1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1557189455
rs1557189455
FGD1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1557189608
rs1557189608
FGD1
CA 0.700 GeneticVariation CLINVAR

dbSNP: rs1557191567
rs1557191567
FGD1
TA 0.700 GeneticVariation CLINVAR

dbSNP: rs1569541255
rs1569541255
FGD1
AG 0.700 CausalMutation CLINVAR

dbSNP: rs387906718
rs387906718
FGD1
A 0.700 CausalMutation CLINVAR

dbSNP: rs756586058
rs756586058
FGD1
TG 0.700 CausalMutation CLINVAR

dbSNP: rs756586058
rs756586058
FGD1
TG 0.700 GeneticVariation CLINVAR

dbSNP: rs756586058
rs756586058
FGD1
T 0.700 CausalMutation CLINVAR

dbSNP: rs45463492
rs45463492
POMC
0.020 GeneticVariation BEFREE This is the first report of FGD associated with a compound heterozygous mutation of C21Y and R146H in the MC2R gene. 17128565

2006
dbSNP: rs758709668
rs758709668
MC2R
0.020 GeneticVariation BEFREE This is the first report of FGD associated with a compound heterozygous mutation of C21Y and R146H in the MC2R gene. 17128565

2006