SPTBN1, spectrin beta, non-erythrocytic 1, 6711

N. diseases: 76; N. variants: 31
Disease: Body Height ×
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: rs1052788
rs1052788 		2 54631374 synonymous variant C/T snv 0.32 0.26
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs17416284
rs17416284 		2 54658233 intron variant A/T snv 0.28
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019