Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs139495292
rs139495292
Entrez Id: 23332;100151683;107985942
Gene Symbol: CLASP1;RNU4ATAC;LOC107985942
CLASP1;RNU4ATAC;LOC107985942
CUI: C1859452
Disease:
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
T 0.700 GeneticVariation CLINVAR
dbSNP: rs180755563
rs180755563
Entrez Id: 23332;100151683;107985942
Gene Symbol: CLASP1;RNU4ATAC;LOC107985942
CLASP1;RNU4ATAC;LOC107985942
CUI: C1859452
Disease:
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
G 0.700 CausalMutation CLINVAR
dbSNP: rs181195449
rs181195449
Entrez Id: 23332;100151683;107985942
Gene Symbol: CLASP1;RNU4ATAC;LOC107985942
CLASP1;RNU4ATAC;LOC107985942
CUI: C1859452
Disease:
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
C 0.700 CausalMutation CLINVAR
dbSNP: rs181195449
rs181195449
Entrez Id: 23332;100151683;107985942
Gene Symbol: CLASP1;RNU4ATAC;LOC107985942
CLASP1;RNU4ATAC;LOC107985942
CUI: C1859452
Disease:
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
A 0.700 CausalMutation CLINVAR
dbSNP: rs188343279
rs188343279
Entrez Id: 23332;100151683;107985942
Gene Symbol: CLASP1;RNU4ATAC;LOC107985942
CLASP1;RNU4ATAC;LOC107985942
CUI: C1859452
Disease:
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
A 0.700 CausalMutation CLINVAR
dbSNP: rs188343279
rs188343279
Entrez Id: 23332;100151683;107985942
Gene Symbol: CLASP1;RNU4ATAC;LOC107985942
CLASP1;RNU4ATAC;LOC107985942
CUI: C1846059
Disease:
Roifman syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs370715569
rs370715569
Entrez Id: 23332;100151683;107985942
Gene Symbol: CLASP1;RNU4ATAC;LOC107985942
CLASP1;RNU4ATAC;LOC107985942
CUI: C1846059
Disease:
Roifman syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs374299350
rs374299350
Entrez Id: 23332;100151683;107985942
Gene Symbol: CLASP1;RNU4ATAC;LOC107985942
CLASP1;RNU4ATAC;LOC107985942
CUI: C1859452
Disease:
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
A 0.700 CausalMutation CLINVAR
dbSNP: rs374299350
rs374299350
Entrez Id: 23332;100151683;107985942
Gene Symbol: CLASP1;RNU4ATAC;LOC107985942
CLASP1;RNU4ATAC;LOC107985942
CUI: C1859452
Disease:
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
A 0.700 GeneticVariation CLINVAR
dbSNP: rs377619732
rs377619732
Entrez Id: 23332;100151683;107985942
Gene Symbol: CLASP1;RNU4ATAC;LOC107985942
CLASP1;RNU4ATAC;LOC107985942
CUI: C1859452
Disease:
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
C 0.700 CausalMutation CLINVAR
dbSNP: rs544312701
rs544312701
Entrez Id: 23332;100151683;107985942
Gene Symbol: CLASP1;RNU4ATAC;LOC107985942
CLASP1;RNU4ATAC;LOC107985942
CUI: C1859452
Disease:
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
A 0.700 CausalMutation CLINVAR
dbSNP: rs559979281
rs559979281
Entrez Id: 23332;100151683;107985942
Gene Symbol: CLASP1;RNU4ATAC;LOC107985942
CLASP1;RNU4ATAC;LOC107985942
CUI: C1846059
Disease:
Roifman syndrome
T 0.700 GeneticVariation CLINVAR
dbSNP: rs559979281
rs559979281
Entrez Id: 23332;100151683;107985942
Gene Symbol: CLASP1;RNU4ATAC;LOC107985942
CLASP1;RNU4ATAC;LOC107985942
CUI: C1837142
Disease:
Poor suck
T 0.700 CausalMutation CLINVAR
dbSNP: rs559979281
rs559979281
Entrez Id: 23332;100151683;107985942
Gene Symbol: CLASP1;RNU4ATAC;LOC107985942
CLASP1;RNU4ATAC;LOC107985942
CUI: C2315100
Disease:
Pediatric failure to thrive
T 0.700 CausalMutation CLINVAR
dbSNP: rs559979281
rs559979281
Entrez Id: 23332;100151683;107985942
Gene Symbol: CLASP1;RNU4ATAC;LOC107985942
CLASP1;RNU4ATAC;LOC107985942
CUI: C4317146
Disease:
Acid reflux
T 0.700 CausalMutation CLINVAR
dbSNP: rs559979281
rs559979281
Entrez Id: 23332;100151683;107985942
Gene Symbol: CLASP1;RNU4ATAC;LOC107985942
CLASP1;RNU4ATAC;LOC107985942
CUI: C0152020
Disease:
Gastroparesis
T 0.700 CausalMutation CLINVAR
dbSNP: rs559979281
rs559979281
Entrez Id: 23332;100151683;107985942
Gene Symbol: CLASP1;RNU4ATAC;LOC107985942
CLASP1;RNU4ATAC;LOC107985942
CUI: C0740852
Disease:
Upper airway obstruction
T 0.700 CausalMutation CLINVAR
dbSNP: rs559979281
rs559979281
Entrez Id: 23332;100151683;107985942
Gene Symbol: CLASP1;RNU4ATAC;LOC107985942
CLASP1;RNU4ATAC;LOC107985942
CUI: C1855650
Disease:
Birth length less than 3rd percentile
T 0.700 CausalMutation CLINVAR
dbSNP: rs559979281
rs559979281
Entrez Id: 23332;100151683;107985942
Gene Symbol: CLASP1;RNU4ATAC;LOC107985942
CLASP1;RNU4ATAC;LOC107985942
CUI: C1838993
Disease:
Episodic vomiting
T 0.700 CausalMutation CLINVAR
dbSNP: rs559979281
rs559979281
Entrez Id: 23332;100151683;107985942
Gene Symbol: CLASP1;RNU4ATAC;LOC107985942
CLASP1;RNU4ATAC;LOC107985942
CUI: C0239234
Disease:
Low set ears
T 0.700 CausalMutation CLINVAR
dbSNP: rs559979281
rs559979281
Entrez Id: 23332;100151683;107985942
Gene Symbol: CLASP1;RNU4ATAC;LOC107985942
CLASP1;RNU4ATAC;LOC107985942
CUI: C0948163
Disease:
Leukoaraiosis
T 0.700 CausalMutation CLINVAR
dbSNP: rs559979281
rs559979281
Entrez Id: 23332;100151683;107985942
Gene Symbol: CLASP1;RNU4ATAC;LOC107985942
CLASP1;RNU4ATAC;LOC107985942
CUI: C4551563
Disease:
Microcephaly (physical finding)
T 0.700 CausalMutation CLINVAR
dbSNP: rs559979281
rs559979281
Entrez Id: 23332;100151683;107985942
Gene Symbol: CLASP1;RNU4ATAC;LOC107985942
CLASP1;RNU4ATAC;LOC107985942
CUI: C4022983
Disease:
Abnormal ciliary motility
T 0.700 CausalMutation CLINVAR
dbSNP: rs559979281
rs559979281
Entrez Id: 23332;100151683;107985942
Gene Symbol: CLASP1;RNU4ATAC;LOC107985942
CLASP1;RNU4ATAC;LOC107985942
CUI: C0026827
Disease:
Muscle hypotonia
T 0.700 CausalMutation CLINVAR
dbSNP: rs559979281
rs559979281
Entrez Id: 23332;100151683;107985942
Gene Symbol: CLASP1;RNU4ATAC;LOC107985942
CLASP1;RNU4ATAC;LOC107985942
CUI: C0494475
Disease:
Tonic - clonic seizures
T 0.700 CausalMutation CLINVAR