Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs606231343
rs606231343
MCM8
1 1.000 20 5955211 missense variant C/G snv 0.800 1.000 1 2015 2015
dbSNP: rs138761187
rs138761187
MCM8
1 1.000 20 5985921 splice acceptor variant G/A snv 4.0E-06 0.700 0
dbSNP: rs869320753
rs869320753
MCM8
1 1.000 20 5977950 frameshift variant -/TA ins 0.700 0