SPTBN2, spectrin beta, non-erythrocytic 2, 6712

N. diseases: 79; N. variants: 11
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 ×
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: rs145522851
rs145522851 		0.925 0.080 11 66685935 missense variant C/T snv 1.0E-04 1.2E-04
CUI: C3809327
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 		0.700 0
dbSNP: rs146859515
rs146859515 		1.000 11 66705395 stop gained G/A;T snv 4.1E-06
CUI: C3809327
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 		0.700 0
dbSNP: rs373728971
rs373728971 		1.000 11 66701231 frameshift variant GTGAG/-;GTGAGGTGAG delins
CUI: C3809327
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 		0.700 0