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: rs104894039
rs104894039
RP9
1 1.000 0.080 7 33095391 missense variant T/C snv 6.4E-05 1.5E-04 0.800 1.000 1 2002 2002
dbSNP: rs104894037
rs104894037
RP9
1 1.000 0.080 7 33096550 missense variant T/A snv 0.700 1.000 1 2002 2002
dbSNP: rs745455593
rs745455593
IMPDH1
2 0.925 0.080 7 128400412 missense variant C/T snv 8.0E-06 2.8E-05 0.010 1.000 1 2006 2006