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

N. diseases: 225; N. variants: 12
Disease: Hypertrophic Cardiomyopathy ×
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: 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: 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