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: rs1327062642
rs1327062642
TULP1
11 0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs138504221
rs138504221
SGSH
9 0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04 0.700 0
dbSNP: rs150726175
rs150726175
NMNAT1
11 0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 0.700 0
dbSNP: rs752914124
rs752914124
SGSH
8 0.827 0.280 17 80210679 stop gained GGAGGTCCTTG/- del 0.700 0
dbSNP: rs765379963
rs765379963
TMCO1
19 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs104894673
rs104894673
CRX
8 0.776 0.160 19 47839335 missense variant C/T snv 2.1E-05 0.010 1.000 1 1999 1999
dbSNP: rs61752904
rs61752904
RPE65
2 0.925 0.120 1 68439033 stop gained T/A snv 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs62636300
rs62636300
RPE65
2 0.925 0.120 1 68431328 missense variant T/C snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs74315328
rs74315328
MYOC ; MYOCOS
6 0.807 0.120 1 171636131 missense variant A/G snv 0.010 1.000 1 2019 2019