MCPH1, microcephalin 1, 79648

N. diseases: 141; N. variants: 44
Disease: 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: rs1057090
rs1057090 		0.925 0.080 8 6621521 missense variant C/A;G;T snv 4.0E-06; 0.43
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 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: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 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: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs767741751
rs767741751 		0.851 0.120 8 6562846 missense variant C/A snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015