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: rs398122947
rs398122947
CRYAA ; LOC107987300
3 0.882 0.040 21 43170619 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs765019311
rs765019311
AVP
2 0.925 0.040 20 3082716 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019