rs796052243, SPATA5

N. diseases: 54
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Recurrent infections
CUI: C0239998
Disease: Recurrent infections
0.700 GeneticVariation CLINVAR
Immunoglobulin A deficiency (disorder)
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
0.700 GeneticVariation CLINVAR
Abnormal delivery
CUI: C0549629
Disease: Abnormal delivery
0.700 GeneticVariation CLINVAR
Gastrointestinal dysmotility
CUI: C1836923
Disease: Gastrointestinal dysmotility
0.700 GeneticVariation CLINVAR
Gastroparesis
CUI: C0152020
Disease: Gastroparesis
0.700 GeneticVariation CLINVAR
Stereotypical hand wringing
CUI: C4023014
Disease: Stereotypical hand wringing
0.700 GeneticVariation CLINVAR
Thick hair
CUI: C4073184
Disease: Thick hair
0.700 GeneticVariation CLINVAR
Brachycephaly
CUI: C0221356
Disease: Brachycephaly
0.700 GeneticVariation CLINVAR
Hand clenching
CUI: C0239815
Disease: Hand clenching
0.700 GeneticVariation CLINVAR
Congenital sensorineural hearing loss
CUI: C1865866
Disease: Congenital sensorineural hearing loss
0.700 GeneticVariation CLINVAR
Short neck
CUI: C0521525
Disease: Short neck
0.700 GeneticVariation CLINVAR
Broad proximal phalanx of the hallux
CUI: C4021338
Disease: Broad proximal phalanx of the hallux
0.700 GeneticVariation CLINVAR
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
0.700 GeneticVariation CLINVAR
Retinal depigmentation
CUI: C0151891
Disease: Retinal depigmentation
0.700 GeneticVariation CLINVAR
Thin lips
CUI: C0578038
Disease: Thin lips
0.700 GeneticVariation CLINVAR
Astigmatism
CUI: C0004106
Disease: Astigmatism
0.700 GeneticVariation CLINVAR
2-3 toe syndactyly
CUI: C4551570
Disease: 2-3 toe syndactyly
0.700 GeneticVariation CLINVAR
Low anterior hairline
CUI: C1842366
Disease: Low anterior hairline
0.700 GeneticVariation CLINVAR
Hip Dysplasia
CUI: C1328407
Disease: Hip Dysplasia
0.700 GeneticVariation CLINVAR
Almond-shaped palpebral fissure
CUI: C4024780
Disease: Almond-shaped palpebral fissure
0.700 GeneticVariation CLINVAR
Ulnar deviation of the wrist
CUI: C0231678
Disease: Ulnar deviation of the wrist
0.700 GeneticVariation CLINVAR
Widely spaced teeth
CUI: C1844813
Disease: Widely spaced teeth
0.700 GeneticVariation CLINVAR
Induced vaginal delivery
CUI: C4072908
Disease: Induced vaginal delivery
0.700 GeneticVariation CLINVAR
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
0.700 GeneticVariation CLINVAR
Long face
CUI: C1836047
Disease: Long face
0.700 GeneticVariation CLINVAR