BCR, BCR activator of RhoGEF and GTPase, 613

N. diseases: 392; N. variants: 7
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: rs6003555
rs6003555
1.000 0.080 22 23212124 intron variant T/C snv 7.5E-02
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs574384780
rs574384780
1.000 0.160 22 23181886 missense variant T/A;C snv 2.7E-04; 4.0E-06
CUI: C0024419
Disease: Waldenstrom Macroglobulinemia
Waldenstrom Macroglobulinemia
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.020 1.000 2 2013 2016
dbSNP: rs140504
rs140504
0.882 0.040 22 23285182 missense variant A/G snv 0.81 0.86
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
Mental Disorders 0.010 1.000 1 2005 2005
dbSNP: rs140504
rs140504
0.882 0.040 22 23285182 missense variant A/G snv 0.81 0.86
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
Mental Disorders 0.010 1.000 1 2005 2005
dbSNP: rs140504
rs140504
0.882 0.040 22 23285182 missense variant A/G snv 0.81 0.86
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.010 1.000 1 2005 2005
dbSNP: rs369488601
rs369488601
1.000 0.080 22 23181175 missense variant G/A;C snv 1.9E-05; 9.7E-05
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs766124888
rs766124888
1.000 0.080 22 23253817 missense variant C/A;G snv 4.0E-06; 4.0E-06
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs768288452
rs768288452
1.000 0.080 22 23181822 missense variant A/G snv 4.1E-06
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs775014154
rs775014154
1.000 0.080 22 23181637 missense variant C/T snv 5.8E-05 7.0E-05
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019