rs145522851, SPTBN2

N. diseases: 4
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.
Abnormal involuntary movement
CUI: C0392702
Disease: Abnormal involuntary movement
10 0.925 0.080 11 66685935 missense variant C/T snv 1.0E-04 1.2E-04 0.700 0
Kinetic tremor
CUI: C4551521
Disease: Kinetic tremor
5 0.925 0.080 11 66685935 missense variant C/T snv 1.0E-04 1.2E-04 0.700 0
Nystagmus and other irregular eye movements
CUI: C0339666
Disease: Nystagmus and other irregular eye movements
1 0.925 0.080 11 66685935 missense variant C/T snv 1.0E-04 1.2E-04 0.700 0
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
CUI: C3809327
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
3 0.925 0.080 11 66685935 missense variant C/T snv 1.0E-04 1.2E-04 0.700 0