Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918508
rs121918508
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome
0.800 GeneticVariation UNIPROT Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation. 18056630 2007
dbSNP: rs121918509
rs121918509
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome
0.800 GeneticVariation UNIPROT Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation. 18056630 2007
dbSNP: rs121918508
rs121918508
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome
0.800 GeneticVariation UNIPROT Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
dbSNP: rs121918509
rs121918509
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome
0.800 GeneticVariation UNIPROT Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
dbSNP: rs121918508
rs121918508
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome
T 0.800 CausalMutation CLINVAR
dbSNP: rs121918509
rs121918509
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome
T 0.800 CausalMutation CLINVAR
dbSNP: rs1057519044
rs1057519044
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome
T 0.700 GeneticVariation CLINVAR
dbSNP: rs121913478
rs121913478
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome
C 0.700 CausalMutation CLINVAR
dbSNP: rs121918487
rs121918487
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs121918491
rs121918491
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs1434545235
rs1434545235
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome
C 0.700 CausalMutation CLINVAR
dbSNP: rs1554907337
rs1554907337
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554917471
rs1554917471
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554927408
rs1554927408
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome
C 0.700 CausalMutation CLINVAR
dbSNP: rs79184941
rs79184941
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome
C 0.700 CausalMutation CLINVAR
dbSNP: rs879253720
rs879253720
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome
A 0.700 CausalMutation CLINVAR