rs869312685, ITPR1

N. diseases: 11
Source: ALL
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.
SPINOCEREBELLAR ATAXIA 29
CUI: C1861732
Disease: SPINOCEREBELLAR ATAXIA 29
10 0.807 0.240 3 4815135 missense variant G/A;C snv 0.700 1.000 1 2015 2015
Abnormality of cardiovascular system morphology
13 0.807 0.240 3 4815135 missense variant G/A;C snv 0.700 0
Cerebellar Hypoplasia
CUI: C0266470
Disease: Cerebellar Hypoplasia
26 0.807 0.240 3 4815135 missense variant G/A;C snv 0.700 0
Dandy-Walker Syndrome
CUI: C0010964
Disease: Dandy-Walker Syndrome
9 0.807 0.240 3 4815135 missense variant G/A;C snv 0.700 0
Delayed speech and language development
192 0.807 0.240 3 4815135 missense variant G/A;C snv 0.700 0
Enlarged cisterna magna
CUI: C1853377
Disease: Enlarged cisterna magna
4 0.807 0.240 3 4815135 missense variant G/A;C snv 0.700 0
Hypoplasia of the pons
CUI: C1848529
Disease: Hypoplasia of the pons
3 0.807 0.240 3 4815135 missense variant G/A;C snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.807 0.240 3 4815135 missense variant G/A;C snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.807 0.240 3 4815135 missense variant G/A;C snv 0.700 0
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.807 0.240 3 4815135 missense variant G/A;C snv 0.700 0
SPINOCEREBELLAR ATAXIA 15
CUI: C1847725
Disease: SPINOCEREBELLAR ATAXIA 15
3 0.807 0.240 3 4815135 missense variant G/A;C snv 0.700 0