MCPH1, microcephalin 1, 79648

N. diseases: 141; N. variants: 44
Disease: Diastolic blood pressure ×
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: rs141416541
rs141416541 		8 6494184 non coding transcript exon variant C/T snv 2.7E-02
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017
dbSNP: rs2922895
rs2922895 		8 6522411 intron variant G/C snv 0.41
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018