MCPH1, microcephalin 1, 79648

N. diseases: 141; N. variants: 44
Disease: Breast Carcinoma ×
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: rs2916733
rs2916733 		0.851 0.120 8 6465757 intron variant G/A snv 0.28
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2011 2016
dbSNP: rs747489687
rs747489687 		0.925 0.080 8 6444626 frameshift variant AAGAAATATTGCA/- delins 2.3E-04 1.0E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2016 2019
dbSNP: rs1057090
rs1057090 		0.925 0.080 8 6621521 missense variant C/A;G;T snv 4.0E-06; 0.43
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2912010
rs2912010 		0.925 0.080 8 6621465 synonymous variant C/T snv 0.43 0.40
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2912016
rs2912016 		0.925 0.080 8 6621657 synonymous variant C/A;G snv 0.36; 1.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013