ERBB2, erb-b2 receptor tyrosine kinase 2, 2064

N. diseases: 995; N. variants: 85
Disease: Malignant Neoplasms ×
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: rs1136201
rs1136201 		0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.030 0.667 3 2010 2019
dbSNP: rs121913470
rs121913470 		0.776 0.200 17 39723967 missense variant T/C;G snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs368094521
rs368094521 		0.925 0.120 17 39724861 missense variant G/A snv 1.2E-03 2.6E-04
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs372043866
rs372043866 		0.732 0.240 17 39727965 missense variant G/A;C;T snv 3.2E-05; 2.4E-05; 1.2E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs372811772
rs372811772 		17 39708435 synonymous variant C/T snv 8.0E-06 2.1E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs749539903
rs749539903 		0.827 0.120 17 39726987 missense variant G/A snv 8.4E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs752295912
rs752295912 		0.925 0.080 17 39710398 missense variant C/T snv 1.6E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs977818812
rs977818812 		1.000 0.040 17 39723608 missense variant A/T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019