Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434622
rs121434622
FMR1
0.860 GeneticVariation UNIPROT EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders. 25227148

2015
dbSNP: rs121434622
rs121434622
FMR1
0.860 GeneticVariation UNIPROT ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics. 23765048

2013
dbSNP: rs121434622
rs121434622
FMR1
0.860 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs121434622
rs121434622
FMR1
0.860 GeneticVariation UNIPROT Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors. 22797890

2012
dbSNP: rs121434622
rs121434622
FMR1
0.860 GeneticVariation UNIPROT Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency. 21540884

2011
dbSNP: rs121434622
rs121434622
FMR1
A 0.860 CausalMutation CLINVAR

dbSNP: rs2197706
rs2197706 		A 0.700 GeneticVariation GWASCAT Common-variant associations with fragile X syndrome. 30531935

2019
dbSNP: rs193922936
rs193922936
FMR1 ; FMR1-AS1
CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG 0.700 CausalMutation CLINVAR The fragile X syndromes. 7620122

1995
dbSNP: rs193922936
rs193922936
FMR1 ; FMR1-AS1
CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG 0.700 CausalMutation CLINVAR Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. 1710175

1991
dbSNP: rs1557176576
rs1557176576
FMR1
TA 0.700 CausalMutation CLINVAR

dbSNP: rs1569545382
rs1569545382
FMR1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1569545562
rs1569545562
FMR1
T 0.700 CausalMutation CLINVAR

dbSNP: rs200163413
rs200163413
FMR1
0.700 GeneticVariation UNIPROT