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: rs149648640
rs149648640
PUM3 ; KCNV2
2 0.925 0.080 9 2729470 stop gained G/A;T snv 1.3E-04; 2.0E-05 0.010 1.000 1 2011 2011
dbSNP: rs61753046
rs61753046
ABCA4
2 0.925 0.040 1 93997932 stop gained G/A;T snv 5.2E-05; 4.0E-06 0.700 1.000 1 2000 2000
dbSNP: rs759359491
rs759359491
RDH5 ; BLOC1S1-RDH5
3 0.882 0.040 12 55721287 missense variant G/A;T snv 1.6E-05 0.010 1.000 1 2001 2001
dbSNP: rs146195955
rs146195955
CNGA3
2 0.925 0.120 2 98396137 missense variant G/C snv 7.6E-05 3.2E-04 0.700 0
dbSNP: rs952193754
rs952193754
GUCY2D
1 1.000 0.040 17 8003273 inframe deletion GCCGCCGCCCGCCTG/- delins 2.1E-05 0.700 0
dbSNP: rs1057515576
rs1057515576
ARL6
9 0.807 0.280 3 97787991 frameshift variant TAT/GAAAA delins 0.700 0