SPTBN1, spectrin beta, non-erythrocytic 1, 6711

N. diseases: 76; N. variants: 31
Disease: Bone Density ×
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: rs11898505
rs11898505 		2 54457420 intron variant A/G snv 0.76
CUI: C0005938
Disease: Bone Density
Bone Density 		0.800 1.000 3 2008 2018