rs1064796765, DYNC1H1

N. diseases: 19
Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cataract
CUI: C0086543
Disease: Cataract
13 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
Congenital Epicanthus
CUI: C0678230
Disease: Congenital Epicanthus
30 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
49 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
38 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
Dysgenesis of corpus callosum
CUI: C0431369
Disease: Dysgenesis of corpus callosum
3 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
505 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
Hip Dislocation, Congenital
CUI: C0019555
Disease: Hip Dislocation, Congenital
3 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
Infantile Spasm
CUI: C3887898
Disease: Infantile Spasm
22 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
Limb hypertonia
CUI: C1838391
Disease: Limb hypertonia
12 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
Localized hirsutism
CUI: C4024170
Disease: Localized hirsutism
2 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
19 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
Muscular hypotonia of the trunk
CUI: C1853743
Disease: Muscular hypotonia of the trunk
25 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
Polymicrogyria
CUI: C0266464
Disease: Polymicrogyria
19 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
Poor coordination
CUI: C0563243
Disease: Poor coordination
8 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
417 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
85 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
Upward slant of palpebral fissure
CUI: C0423109
Disease: Upward slant of palpebral fissure
16 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0