Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057090
rs1057090
MCPH1 ; MCPH1-AS1
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 		0.010 1.000 1 2013 2013
dbSNP: rs1057090
rs1057090
MCPH1 ; MCPH1-AS1
0.925 0.080 8 6621521 missense variant C/A;G;T snv 4.0E-06; 0.43
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2013 2013
dbSNP: rs1057090
rs1057090
MCPH1 ; MCPH1-AS1
0.925 0.080 8 6621521 missense variant C/A;G;T snv 4.0E-06; 0.43
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2013 2013
dbSNP: rs2912010
rs2912010
MCPH1 ; MCPH1-AS1
0.925 0.080 8 6621465 synonymous variant C/T snv 0.43 0.40
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2013 2013
dbSNP: rs2912010
rs2912010
MCPH1 ; MCPH1-AS1
0.925 0.080 8 6621465 synonymous variant C/T snv 0.43 0.40
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2013 2013
dbSNP: rs2912010
rs2912010
MCPH1 ; MCPH1-AS1
0.925 0.080 8 6621465 synonymous variant C/T snv 0.43 0.40
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs2912016
rs2912016
MCPH1 ; MCPH1-AS1 ; MIR8055
0.925 0.080 8 6621657 synonymous variant C/A;G snv 0.36; 1.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2013 2013
dbSNP: rs2912016
rs2912016
MCPH1 ; MCPH1-AS1 ; MIR8055
0.925 0.080 8 6621657 synonymous variant C/A;G snv 0.36; 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2013 2013
dbSNP: rs2912016
rs2912016
MCPH1 ; MCPH1-AS1 ; MIR8055
0.925 0.080 8 6621657 synonymous variant C/A;G snv 0.36; 1.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2013 2013