TMPRSS6, transmembrane serine protease 6, 164656

N. diseases: 113; N. variants: 86
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: rs1373272804
rs1373272804 		1.000 0.080 22 37086372 missense variant G/A snv 4.2E-06 7.0E-06
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs137853121
rs137853121 		1.000 0.080 22 37084775 stop gained G/T snv 5.6E-06 7.0E-06
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs137853122
rs137853122 		1.000 0.080 22 37084339 stop gained A/C snv
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs137853123
rs137853123 		1.000 0.080 22 37070557 stop gained G/A snv 5.2E-05 1.4E-05
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1569024289
rs1569024289 		1.000 0.080 22 37098545 stop gained G/C snv
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs749106338
rs749106338 		1.000 0.080 22 37089773 missense variant C/T snv 2.1E-05 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs767094129
rs767094129 		1.000 0.080 22 37070539 frameshift variant CC/-;C;CCC delins 8.0E-06; 4.0E-06
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs775869554
rs775869554 		1.000 0.080 22 37066942 stop gained G/A snv 7.0E-06
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs776877803
rs776877803 		1.000 0.080 22 37095574 missense variant A/G;T snv 1.6E-05; 4.0E-06
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs786205058
rs786205058 		1.000 0.080 22 37073531 splice donor variant C/T snv 4.0E-06
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs786205059
rs786205059 		1.000 0.080 22 37069072 splice donor variant C/G snv
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs786205060
rs786205060 		1.000 0.080 22 37069154 frameshift variant -/GGGG delins
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs869320724
rs869320724 		1.000 0.080 22 37069307 frameshift variant -/GC delins 8.2E-06
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs763330682
rs763330682 		1.000 0.080 22 37103352 synonymous variant C/T snv 8.0E-06 2.1E-05
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs752163489
rs752163489 		0.925 0.120 22 37096044 stop gained C/A;T snv 1.8E-04
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2002 2002
dbSNP: rs752163489
rs752163489 		0.925 0.120 22 37096044 stop gained C/A;T snv 1.8E-04
CUI: C0342541
Disease: Precocious pubarche
Precocious pubarche 		Endocrine System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs733655
rs733655 		0.827 0.240 22 37099011 intron variant T/C snv 0.28
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs733655
rs733655 		0.827 0.240 22 37099011 intron variant T/C snv 0.28
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1421312
rs1421312 		22 37091770 intron variant A/G snv 0.45
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs2017764
rs2017764 		22 37098875 intron variant G/A;C snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs2019848
rs2019848 		22 37090225 intron variant G/A snv 0.15
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs2235321
rs2235321 		22 37066886 synonymous variant G/A snv 0.36 0.38
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs2235323
rs2235323 		22 37089153 intron variant T/C snv 0.40
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs2251655
rs2251655 		22 37094652 intron variant C/T snv 0.42
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs2281090
rs2281090 		22 37099330 intron variant G/A snv 0.17
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009