Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1268789
rs1268789
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C0018498
Disease:
Hair Color
0.700 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825 2018
dbSNP: rs150303591
rs150303591
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C0919267
Disease:
ovarian neoplasm
0.700 GeneticVariation GWASCAT Genome-Wide Study of Response to Platinum, Taxane, and Combination Therapy in Ovarian Cancer: In vitro Phenotypes, Inherited Variation, and Disease Recurrence. 27047539 2016
dbSNP: rs886037765
rs886037765
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C4551480
Disease:
FRASER SYNDROME 1
A 0.700 CausalMutation CLINVAR De novo mutations in autosomal recessive congenital malformations. 27280866 2016
dbSNP: rs886037766
rs886037766
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C4551480
Disease:
FRASER SYNDROME 1
T 0.700 CausalMutation CLINVAR De novo mutations in autosomal recessive congenital malformations. 27280866 2016
dbSNP: rs1006839535
rs1006839535
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C4551480
Disease:
FRASER SYNDROME 1
G 0.700 CausalMutation CLINVAR
dbSNP: rs120074156
rs120074156
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C4551480
Disease:
FRASER SYNDROME 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs120074157
rs120074157
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C4551480
Disease:
FRASER SYNDROME 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs120074158
rs120074158
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C4551480
Disease:
FRASER SYNDROME 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs120074159
rs120074159
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C4551480
Disease:
FRASER SYNDROME 1
G 0.700 CausalMutation CLINVAR
dbSNP: rs1325190118
rs1325190118
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C4551480
Disease:
FRASER SYNDROME 1
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1560433104
rs1560433104
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C4551480
Disease:
FRASER SYNDROME 1
GT 0.700 CausalMutation CLINVAR
dbSNP: rs372359356
rs372359356
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C0235833
Disease:
Congenital diaphragmatic hernia
A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs372359356
rs372359356
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C0019322
Disease:
Umbilical hernia
A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs372359356
rs372359356
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C0011981
Disease:
Diaphragmatic Eventration
A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs61729366
rs61729366
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C0521622
Disease:
Bilateral hydronephrosis
A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs61729366
rs61729366
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C0019294
Disease:
Hernia, Inguinal
A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs61729366
rs61729366
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C0018818
Disease:
Ventricular Septal Defects
A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs61729366
rs61729366
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C0235833
Disease:
Congenital diaphragmatic hernia
A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs61729366
rs61729366
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C0010417
Disease:
Cryptorchidism
A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs61729366
rs61729366
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C0016842
Disease:
Congenital pectus excavatum
A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs730882179
rs730882179
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C4551480
Disease:
FRASER SYNDROME 1
CGG 0.700 CausalMutation CLINVAR
dbSNP: rs730882180
rs730882180
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C4551480
Disease:
FRASER SYNDROME 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs730882180
rs730882180
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C0265233
Disease:
Cryptophthalmos syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs755750961
rs755750961
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C0265233
Disease:
Cryptophthalmos syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs757311669
rs757311669
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C4551480
Disease:
FRASER SYNDROME 1
G 0.700 GeneticVariation CLINVAR