rs1057519561, SNX14

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.
Cerebellar Dysmetria
CUI: C0234162
Disease: Cerebellar Dysmetria
17 0.882 0.200 6 85533701 frameshift variant -/AAAAAAAAAAA delins 7.0E-06 0.700 0
Exotropia
CUI: C0015310
Disease: Exotropia
23 0.882 0.200 6 85533701 frameshift variant -/AAAAAAAAAAA delins 7.0E-06 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.882 0.200 6 85533701 frameshift variant -/AAAAAAAAAAA delins 7.0E-06 0.700 0
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20
CUI: C4225355
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20
10 0.882 0.200 6 85533701 frameshift variant -/AAAAAAAAAAA delins 7.0E-06 0.700 0