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: 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: rs1238632042
rs1238632042
BBS5
1 1.000 0.040 2 169492899 missense variant C/T snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs1271498710
rs1271498710
NMNAT1
1 1.000 0.040 1 9975747 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs1568725951
rs1568725951
ABHD12
1 1.000 0.040 20 25320294 stop gained C/T snv 0.700 0
dbSNP: rs531851447
rs531851447
CABP4
1 1.000 0.040 11 67458392 stop gained C/T snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs952193754
rs952193754
GUCY2D
1 1.000 0.040 17 8003273 inframe deletion GCCGCCGCCCGCCTG/- delins 2.1E-05 0.700 0