SNX14, sorting nexin 14, 57231

N. diseases: 59; N. variants: 12
Disease: Cerebellar Dysmetria ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519561
rs1057519561 		0.882 0.200 6 85533701 frameshift variant -/AAAAAAAAAAA delins 7.0E-06
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs774694340
rs774694340 		0.882 0.200 6 85508043 frameshift variant A/- del 6.4E-05 1.4E-05
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0