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: rs121918327
rs121918327
BBS12
12 0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 0.700 0
dbSNP: rs1553348960
rs1553348960
EFEMP1 ; LOC112268416
5 0.882 0.080 2 55870851 missense variant A/G snv 0.700 0
dbSNP: rs1555968874
rs1555968874
CHM
2 0.925 0.040 X 86027530 inframe deletion AGC/- delins 0.700 0
dbSNP: rs1558939623
rs1558939623
CHN1
19 0.732 0.480 2 174824479 missense variant C/T snv 0.700 0
dbSNP: rs199679165
rs199679165
USH2A
6 0.827 0.200 1 216097196 stop gained G/A snv 1.6E-05 0.700 0
dbSNP: rs29001566
rs29001566
RHO
10 0.807 0.080 3 129533711 missense variant C/A;G;T snv 0.700 0
dbSNP: rs549625604
rs549625604
BBS10
13 0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 0.700 0
dbSNP: rs771409809
rs771409809
WFS1
19 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
dbSNP: rs777103184
rs777103184
PCARE
6 0.827 0.040 2 29073071 stop gained C/T snv 8.0E-06 0.700 0
dbSNP: rs876657731
rs876657731
USH2A ; LOC102723833
6 0.807 0.200 1 216073096 splice donor variant C/T snv 1.2E-05 0.700 0
dbSNP: rs886039797
rs886039797
BBS2
7 0.807 0.280 16 56502807 missense variant A/C snv 4.0E-06 0.700 0
dbSNP: rs886039802
rs886039802
BBS4
6 0.851 0.200 15 72712259 stop gained C/T snv 0.700 0
dbSNP: rs104893789
rs104893789
RHO
3 0.882 0.080 3 129532711 missense variant C/A snv 0.020 0.500 2 1994 2003
dbSNP: rs104893796
rs104893796
RHO
4 0.851 0.080 3 129529014 missense variant C/T snv 0.020 0.500 2 2003 2003
dbSNP: rs104893797
rs104893797
RHO
3 0.882 0.080 3 129528800 missense variant C/G snv 0.010 1.000 1 2000 2000
dbSNP: rs104894910
rs104894910
NYX
3 0.882 0.080 X 41473734 missense variant G/C snv 0.010 1.000 1 2006 2006
dbSNP: rs1448665709
rs1448665709
LRAT
1 1.000 0.040 4 154744844 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs369572769
rs369572769
LAMA5
2 0.925 0.080 20 62312259 missense variant C/T snv 2.5E-05 1.4E-05 0.010 1.000 1 2017 2017