BST1, bone marrow stromal cell antigen 1, 683

N. diseases: 41; N. variants: 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: rs11724635
rs11724635
0.925 0.080 4 15735478 intron variant C/A;G snv 0.43
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.880 0.846 13 2011 2019
dbSNP: rs4698412
rs4698412
1.000 0.040 4 15735725 intron variant G/A;T snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.850 1.000 7 2011 2019
dbSNP: rs4538475
rs4538475
1.000 0.040 4 15736314 intron variant A/G snv 0.24
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.810 1.000 3 2009 2012
dbSNP: rs11931532
rs11931532
1.000 0.040 4 15724143 intron variant T/C snv 0.13
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.730 0.500 4 2012 2019
dbSNP: rs12645693
rs12645693
1.000 0.040 4 15727911 intron variant G/A snv 8.1E-02
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.710 0.500 2 2012 2012
dbSNP: rs13117281
rs13117281
4 15767607 intergenic variant T/C snv 0.40
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2019 2019
dbSNP: rs16892260
rs16892260
4 15711380 intron variant G/T snv 0.20
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs16892391
rs16892391
0.925 0.040 4 15761347 intergenic variant G/A;T snv
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 1.000 1 2018 2018
dbSNP: rs16892391
rs16892391
0.925 0.040 4 15761347 intergenic variant G/A;T snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs28404156
rs28404156
4 15736109 missense variant G/A snv 7.4E-02 0.10
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs3213710
rs3213710
1.000 0.040 4 15715698 intron variant G/A snv 0.52 0.44
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs4266290
rs4266290
1.000 0.040 4 15735495 intron variant G/C snv 0.33
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4538475
rs4538475
1.000 0.040 4 15736314 intron variant A/G snv 0.24
CUI: C0162534
Disease: Prion Diseases
Prion Diseases
Infections; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs4613561
rs4613561
4 15736267 intron variant T/C snv 0.39
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs73224660
rs73224660
4 15713139 intron variant G/A snv 0.15
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs12502586
rs12502586
1.000 0.040 4 15724941 intron variant G/A snv 7.0E-02
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.020 1.000 2 2011 2011
dbSNP: rs11724635
rs11724635
0.925 0.080 4 15735478 intron variant C/A;G snv 0.43
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.010 1.000 1 2012 2012
dbSNP: rs11724635
rs11724635
0.925 0.080 4 15735478 intron variant C/A;G snv 0.43
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017