RUNX3, RUNX family transcription factor 3, 864

N. diseases: 281; N. variants: 16
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: rs7536201
rs7536201 		0.925 0.040 1 24966593 upstream gene variant T/C;G snv
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.800 1.000 1 2012 2012
dbSNP: rs1005734
rs1005734 		1.000 0.080 1 24935531 intron variant C/A;T snv
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs10794666
rs10794666 		1 24924339 intron variant C/T snv 0.45
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs188468174
rs188468174 		1.000 0.080 1 24965206 upstream gene variant C/T snv 6.5E-03
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs189131320
rs189131320 		1.000 1 24951485 intron variant C/G snv 2.3E-03
CUI: C0869220
Disease: Adverse effects, not elsewhere classified
Adverse effects, not elsewhere classified 		0.700 1.000 1 2019 2019
dbSNP: rs6672420
rs6672420 		0.827 0.120 1 24964519 missense variant A/T snv 0.56 0.50
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs742230
rs742230 		1.000 0.080 1 24924933 intron variant G/A snv 0.53
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs742230
rs742230 		1.000 0.080 1 24924933 intron variant G/A snv 0.53
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs7517302
rs7517302 		1.000 0.080 1 24927826 intron variant C/T snv 0.53
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs7536201
rs7536201 		0.925 0.040 1 24966593 upstream gene variant T/C;G snv
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs760805
rs760805 		0.776 0.240 1 24925432 intron variant A/T snv 0.42
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs760805
rs760805 		0.776 0.240 1 24925432 intron variant A/T snv 0.42
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs79598985
rs79598985 		1.000 0.080 1 24946532 intron variant G/A snv 5.1E-02
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs9438876
rs9438876 		1.000 0.040 1 24914625 intron variant A/G snv 0.53
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs6672420
rs6672420 		0.827 0.120 1 24964519 missense variant A/T snv 0.56 0.50
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 0.500 2 2015 2017
dbSNP: rs11249206
rs11249206 		0.851 0.160 1 24951491 intron variant C/T snv 0.48
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2015 2015
dbSNP: rs11249206
rs11249206 		0.851 0.160 1 24951491 intron variant C/T snv 0.48
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2008 2008
dbSNP: rs11249206
rs11249206 		0.851 0.160 1 24951491 intron variant C/T snv 0.48
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2008 2008
dbSNP: rs11249206
rs11249206 		0.851 0.160 1 24951491 intron variant C/T snv 0.48
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1395621
rs1395621 		1.000 0.040 1 24944081 intron variant T/C snv 0.64
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2236851
rs2236851 		1.000 0.040 1 24917063 intron variant C/T snv 0.12
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2236852
rs2236852 		1.000 0.080 1 24917276 intron variant A/G snv 0.45
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2015 2015
dbSNP: rs6672420
rs6672420 		0.827 0.120 1 24964519 missense variant A/T snv 0.56 0.50
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2009 2009
dbSNP: rs6672420
rs6672420 		0.827 0.120 1 24964519 missense variant A/T snv 0.56 0.50
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2009 2009
dbSNP: rs6672420
rs6672420 		0.827 0.120 1 24964519 missense variant A/T snv 0.56 0.50
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019