SPTBN1, spectrin beta, non-erythrocytic 1, 6711

N. diseases: 76; N. variants: 31
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
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
dbSNP: rs1245342105
rs1245342105 		1.000 0.040 2 54622367 missense variant T/C snv 4.0E-06
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs10181201
rs10181201 		2 54572037 intron variant A/G;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs17046036
rs17046036 		2 54628317 intron variant G/A snv 0.15
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs2971880
rs2971880 		2 54658503 intron variant T/A snv 0.35
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs7586066
rs7586066 		2 54583355 intron variant A/G snv 0.16
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs1245342105
rs1245342105 		1.000 0.040 2 54622367 missense variant T/C snv 4.0E-06
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs1112919
rs1112919 		1.000 0.040 2 54538037 intron variant G/A snv 0.29
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11895933
rs11895933 		1.000 0.040 2 54540655 non coding transcript exon variant A/G snv 9.9E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11904679
rs11904679 		1.000 0.040 2 54539021 intron variant C/A snv 0.12
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12104998
rs12104998 		1.000 0.040 2 54535599 intron variant T/G snv 0.80
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12105792
rs12105792 		1.000 0.040 2 54553416 intron variant T/C snv 0.81
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs13016942
rs13016942 		1.000 0.040 2 54552097 intron variant T/C snv 0.81
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1367295
rs1367295 		1.000 0.040 2 54538015 intron variant G/A;C snv 0.80
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17039558
rs17039558 		1.000 0.040 2 54553737 intron variant C/G snv 0.15
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17344072
rs17344072 		1.000 0.040 2 54552141 intron variant T/G snv 0.80
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3936082
rs3936082 		1.000 0.040 2 54550783 intron variant T/C snv 9.4E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4261758
rs4261758 		1.000 0.040 2 54542506 intron variant C/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4671956
rs4671956 		1.000 0.040 2 54546618 non coding transcript exon variant A/T snv 0.81
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6729826
rs6729826 		1.000 0.040 2 54541531 intron variant A/G snv 0.71
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6734445
rs6734445 		1.000 0.040 2 54570661 intron variant C/T snv 0.27
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6757017
rs6757017 		1.000 0.040 2 54553641 intron variant A/T snv 5.8E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs9309255
rs9309255 		1.000 0.040 2 54546704 intron variant T/A snv 0.30
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017