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: rs387906978
rs387906978
HES7
2 0.925 17 8121693 missense variant C/A snv 2.8E-05 0.700 1.000 2 2008 2010
dbSNP: rs387906979
rs387906979
HES7
2 0.925 17 8122397 missense variant T/C snv 0.700 1.000 2 2008 2010
dbSNP: rs1332109041
rs1332109041
HES7
1 1.000 17 8123083 missense variant T/C snv 8.6E-06 1.4E-05 0.700 0