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: rs587777928
rs587777928
GUCY1A1
1 4 155710647 frameshift variant -/T delins 0.700 1.000 1 2013 2013
dbSNP: rs587777929
rs587777929
CCT7
1 2 73252803 missense variant C/T snv 2.0E-05 4.2E-05 0.700 1.000 1 2013 2013
dbSNP: rs5174
rs5174
LRP8
10 0.776 0.240 1 53247055 missense variant C/T snv 0.29 0.28 0.700 0