Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1135401779
rs1135401779
CUI: C1843367
Disease: Poor school performance
Poor school performance
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554208945
rs1554208945
CUI: C1865598
Disease: Alveolar ridge overgrowth
Alveolar ridge overgrowth
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554208945
rs1554208945
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554208945
rs1554208945
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554208945
rs1554208945
CUI: C1839758
Disease: Narrow forehead
Narrow forehead
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554208945
rs1554208945
CUI: C1853738
Disease: Long eyelashes
Long eyelashes
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554208945
rs1554208945
CUI: C4021555
Disease: Clinodactyly of the 3rd toe
Clinodactyly of the 3rd toe
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554208945
rs1554208945
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554208945
rs1554208945
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554208945
rs1554208945
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554208945
rs1554208945
CUI: C0920299
Disease: Overriding toe
Overriding toe
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554208945
rs1554208945
CUI: C0027092
Disease: Myopia
Myopia
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554208945
rs1554208945
CUI: C1859736
Disease: Progressive spastic quadriplegia
Progressive spastic quadriplegia
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554208945
rs1554208945
CUI: C4317146
Disease: Acid reflux
Acid reflux
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554208945
rs1554208945
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554208945
rs1554208945
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554208945
rs1554208945
CUI: C0013421
Disease: Dystonia
Dystonia
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554208945
rs1554208945
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554208945
rs1554208945
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554208945
rs1554208945
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554208945
rs1554208945
CUI: C1843367
Disease: Poor school performance
Poor school performance
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554208945
rs1554208945
CUI: C0263523
Disease: Micronychia (disorder)
Micronychia (disorder)
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554208945
rs1554208945
CUI: C4020740
Disease: Clinodactyly of the 4th toe
Clinodactyly of the 4th toe
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554208945
rs1554208945
CUI: C0036572
Disease: Seizures
Seizures
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554208945
rs1554208945
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
C 0.700 GeneticVariation CLINVAR