B2M, beta-2-microglobulin, 567

N. diseases: 352; N. variants: 6
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: rs398122820
rs398122820 		0.790 0.240 15 44715641 missense variant G/A snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2015 2015
dbSNP: rs398122820
rs398122820 		0.790 0.240 15 44715641 missense variant G/A snv
CUI: C4081731
Disease: Hereditary systemic amyloidosis
Hereditary systemic amyloidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.050 1.000 5 2012 2019
dbSNP: rs104894481
rs104894481 		1.000 0.080 15 44711577 missense variant G/C;T snv 4.0E-06
CUI: C1855796
Disease: Hypoproteinemia, Hypercatabolic
Hypoproteinemia, Hypercatabolic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 2006 2006
dbSNP: rs398122820
rs398122820 		0.790 0.240 15 44715641 missense variant G/A snv
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 2012 2012
dbSNP: rs863225287
rs863225287 		1.000 0.080 15 44711614 splice donor variant G/T snv
CUI: C1855796
Disease: Hypoproteinemia, Hypercatabolic
Hypoproteinemia, Hypercatabolic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs398122820
rs398122820 		0.790 0.240 15 44715641 missense variant G/A snv
CUI: C0021831
Disease: Intestinal Diseases
Intestinal Diseases 		Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs398122820
rs398122820 		0.790 0.240 15 44715641 missense variant G/A snv
CUI: C2004461
Disease: Bowel dysfunction
Bowel dysfunction 		Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1023835002
rs1023835002 		0.763 0.280 15 44711547 start lost A/G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1023835002
rs1023835002 		0.763 0.280 15 44711547 start lost A/G;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519877
rs1057519877 		0.763 0.280 15 44711549 start lost G/A snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519877
rs1057519877 		0.763 0.280 15 44711549 start lost G/A snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519879
rs1057519879 		0.763 0.280 15 44711548 start lost T/C;G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519879
rs1057519879 		0.763 0.280 15 44711548 start lost T/C;G snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1023835002
rs1023835002 		0.763 0.280 15 44711547 start lost A/G;T snv
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1023835002
rs1023835002 		0.763 0.280 15 44711547 start lost A/G;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1023835002
rs1023835002 		0.763 0.280 15 44711547 start lost A/G;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519877
rs1057519877 		0.763 0.280 15 44711549 start lost G/A snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519877
rs1057519877 		0.763 0.280 15 44711549 start lost G/A snv
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519877
rs1057519877 		0.763 0.280 15 44711549 start lost G/A snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519879
rs1057519879 		0.763 0.280 15 44711548 start lost T/C;G snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519879
rs1057519879 		0.763 0.280 15 44711548 start lost T/C;G snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519879
rs1057519879 		0.763 0.280 15 44711548 start lost T/C;G snv
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1023835002
rs1023835002 		0.763 0.280 15 44711547 start lost A/G;T snv
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519877
rs1057519877 		0.763 0.280 15 44711549 start lost G/A snv
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519879
rs1057519879 		0.763 0.280 15 44711548 start lost T/C;G snv
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016