BABAM2, BRISC and BRCA1 A complex member 2, 9577

N. diseases: 42; N. variants: 18
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: rs7601155
rs7601155 		2 28124815 intron variant C/T snv 6.8E-02
CUI: C0455829
Disease: Waist Circumference
Waist Circumference 		0.800 1.000 1 2013 2013
dbSNP: rs10189434
rs10189434 		2 28135884 intron variant C/T snv 0.23
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 2 2018 2018
dbSNP: rs10173528
rs10173528 		2 28065525 intron variant C/T snv 0.51
CUI: C4317009
Disease: Diverticular Diseases
Diverticular Diseases 		Digestive System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1038694
rs1038694 		2 28150685 intron variant A/G snv 0.73
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs17006489
rs17006489 		2 28081763 intron variant A/G snv 0.17
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17006576
rs17006576 		2 28143047 intron variant G/A snv 0.23
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs17709034
rs17709034 		0.925 0.120 2 28201605 intron variant C/T snv 8.7E-02
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs17709034
rs17709034 		0.925 0.120 2 28201605 intron variant C/T snv 8.7E-02
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2305929
rs2305929 		1.000 0.040 2 27891044 intron variant A/G snv 0.14
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		0.700 1.000 1 2012 2012
dbSNP: rs2305929
rs2305929 		1.000 0.040 2 27891044 intron variant A/G snv 0.14
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2305929
rs2305929 		1.000 0.040 2 27891044 intron variant A/G snv 0.14
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2305929
rs2305929 		1.000 0.040 2 27891044 intron variant A/G snv 0.14
CUI: C0236773
Disease: Depressed bipolar I disorder
Depressed bipolar I disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs4401177
rs4401177 		0.925 0.120 2 28121418 intron variant G/A snv 8.6E-02
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs4401177
rs4401177 		0.925 0.120 2 28121418 intron variant G/A snv 8.6E-02
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs55807911
rs55807911 		2 28198606 intron variant T/C snv 0.19
CUI: C0337443
Disease: Sodium measurement
Sodium measurement 		0.700 1.000 1 2019 2019
dbSNP: rs55819434
rs55819434 		1.000 2 28110242 intron variant A/G snv 0.14
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs55819434
rs55819434 		1.000 2 28110242 intron variant A/G snv 0.14
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.700 1.000 1 2019 2019
dbSNP: rs56078812
rs56078812 		2 28070139 intron variant G/A snv 6.8E-02
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs62140395
rs62140395 		2 28022059 intron variant G/C snv 7.9E-02
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs6722113
rs6722113 		2 28194637 intron variant G/A;C;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs6741499
rs6741499 		2 28146569 intron variant C/T snv 0.25
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs7349418
rs7349418 		0.925 0.120 2 28220183 intron variant C/T snv 0.51
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs7349418
rs7349418 		0.925 0.120 2 28220183 intron variant C/T snv 0.51
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs7567409
rs7567409 		1.000 0.040 2 28293404 intron variant G/A snv 0.25
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs7572644
rs7572644 		0.925 0.120 2 28097166 intron variant T/C snv 0.21
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2019 2019