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: rs104893736
rs104893736
CRYGS
5 0.827 0.040 3 186539566 missense variant C/A snv 0.010 1.000 1 2009 2009
dbSNP: rs1131692297
rs1131692297
PAX6
3 0.882 0.080 11 31801653 stop gained G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs121907914
rs121907914
PAX6
3 0.882 0.080 11 31801611 stop gained G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs121908192
rs121908192
GFER ; NOXO1
3 0.925 0.280 16 1985991 missense variant G/A snv 2.8E-05 3.5E-05 0.010 1.000 1 2010 2010