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: rs104894927
rs104894927
RP2
4 0.882 0.080 X 46853731 stop gained C/T snv 0.010 1.000 1 2001 2001
dbSNP: rs111033578
rs111033578
MFRP ; C1QTNF5
5 0.827 0.200 11 119339574 missense variant G/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1123773
rs1123773
SRPX
1 1.000 0.080 X 38161035 missense variant G/A snv 9.4E-03 8.9E-03 0.010 1.000 1 1995 1995
dbSNP: rs35565082
rs35565082
RP2
1 1.000 0.080 X 46853840 frameshift variant -/T delins 0.010 1.000 1 2019 2019
dbSNP: rs62635004
rs62635004
RPGR
2 0.925 0.080 X 38297391 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs62638634
rs62638634
RPGR
4 0.925 0.080 X 38322921 missense variant C/A snv 0.010 1.000 1 1998 1998
dbSNP: rs62642057
rs62642057
RPGR
3 0.882 0.080 X 38304746 missense variant C/T snv 0.010 1.000 1 2007 2007