SPTBN1, spectrin beta, non-erythrocytic 1, 6711

N. diseases: 76; N. variants: 31
Disease: Osteoporotic Fractures ×
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: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures 		Wounds and Injuries 0.020 1.000 2 2010 2013
dbSNP: rs12475342
rs12475342 		2 54655541 intron variant G/A snv 0.28
CUI: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures 		Wounds and Injuries 0.010 1.000 1 2012 2012
dbSNP: rs2941584
rs2941584 		2 54654484 intron variant T/C snv 0.64
CUI: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures 		Wounds and Injuries 0.010 1.000 1 2012 2012