MUC2, mucin 2, oligomeric mucus/gel-forming, 4583

N. diseases: 225; N. variants: 12
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: rs7934606
rs7934606 		1.000 0.040 11 1100037 intron variant C/G;T snv
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.810 1.000 2 2013 2016
dbSNP: rs10902088
rs10902088 		1.000 0.040 11 1090036 non coding transcript exon variant T/C snv 0.73
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2071174
rs2071174 		11 1073712 upstream gene variant T/C snv 0.39
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.700 1.000 1 2013 2013
dbSNP: rs6421972
rs6421972 		11 1102586 synonymous variant C/T snv 0.30
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.700 1.000 1 2013 2013
dbSNP: rs7396030
rs7396030 		11 1085368 intron variant A/G snv 0.71
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.700 1.000 1 2013 2013
dbSNP: rs7480563
rs7480563 		11 1107741 non coding transcript exon variant T/C snv 0.58 0.56
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.700 1.000 1 2013 2013
dbSNP: rs7927765
rs7927765 		11 1110718 downstream gene variant G/A snv 0.16
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs10794288
rs10794288 		1.000 0.040 11 1086825 non coding transcript exon variant C/G;T snv
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs10902088
rs10902088 		1.000 0.040 11 1090036 non coding transcript exon variant T/C snv 0.73
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs11245954
rs11245954 		1.000 0.040 11 1107170 non coding transcript exon variant A/G snv 6.7E-02 8.9E-02
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs11825977
rs11825977 		0.925 0.040 11 1075920 splice region variant G/A snv 0.18 0.20
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs11825977
rs11825977 		0.925 0.040 11 1075920 splice region variant G/A snv 0.18 0.20
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs561901401
rs561901401 		1.000 0.040 11 1074959 non coding transcript exon variant G/C;T snv 1.8E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs561901401
rs561901401 		1.000 0.040 11 1074959 non coding transcript exon variant G/C;T snv 1.8E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs745428980
rs745428980 		1.000 0.040 11 1075743 non coding transcript exon variant G/A;T snv 8.2E-06; 4.1E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs745428980
rs745428980 		1.000 0.040 11 1075743 non coding transcript exon variant G/A;T snv 8.2E-06; 4.1E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs7934606
rs7934606 		1.000 0.040 11 1100037 intron variant C/G;T snv
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016