Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs869312685
rs869312685
ITPR1
0.807 0.240 3 4815135 missense variant G/A;C snv
CUI: C1861732
Disease: SPINOCEREBELLAR ATAXIA 29
SPINOCEREBELLAR ATAXIA 29 		0.700 1.000 1 2015 2015
dbSNP: rs869312685
rs869312685
ITPR1
0.807 0.240 3 4815135 missense variant G/A;C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs869312685
rs869312685
ITPR1
0.807 0.240 3 4815135 missense variant G/A;C snv
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		0.700 0
dbSNP: rs869312685
rs869312685
ITPR1
0.807 0.240 3 4815135 missense variant G/A;C snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs869312685
rs869312685
ITPR1
0.807 0.240 3 4815135 missense variant G/A;C snv
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.700 0
dbSNP: rs869312685
rs869312685
ITPR1
0.807 0.240 3 4815135 missense variant G/A;C snv
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.700 0
dbSNP: rs869312685
rs869312685
ITPR1
0.807 0.240 3 4815135 missense variant G/A;C snv
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		0.700 0
dbSNP: rs869312685
rs869312685
ITPR1
0.807 0.240 3 4815135 missense variant G/A;C snv
CUI: C1847725
Disease: SPINOCEREBELLAR ATAXIA 15
SPINOCEREBELLAR ATAXIA 15 		0.700 0
dbSNP: rs869312685
rs869312685
ITPR1
0.807 0.240 3 4815135 missense variant G/A;C snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs869312685
rs869312685
ITPR1
0.807 0.240 3 4815135 missense variant G/A;C snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs869312685
rs869312685
ITPR1
0.807 0.240 3 4815135 missense variant G/A;C snv
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons 		0.700 0