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: rs387907338
rs387907338
CRYAB ; HSPB2 ; HSPB2-C11orf52
5 0.827 0.200 11 111911559 missense variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs534473091
rs534473091
CRYAB
3 0.882 0.040 11 111908925 missense variant G/A snv 2.0E-05 4.9E-05 0.010 1.000 1 2010 2010
dbSNP: rs80358194
rs80358194
FOXE3 ; LINC01389
2 0.925 0.080 1 47417035 stop gained C/A snv 1.6E-04 0.010 1.000 1 2010 2010