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: rs869320624
rs869320624
EMC1 ; EMC1-AS1
13 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 0.700 1.000 2 2016 2017
dbSNP: rs2281894
rs2281894
CELSR2
1 1.000 0.040 1 109267922 synonymous variant C/A snv 0.22 0.17 0.010 1.000 1 2017 2017
dbSNP: rs121908188
rs121908188
SELENON
25 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0
dbSNP: rs199564797
rs199564797
SELENON
25 0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs745886248
rs745886248
SELENON
25 0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06 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: rs1553403917
rs1553403917
ALMS1
7 0.807 0.320 2 73451171 frameshift variant -/A delins 0.700 1.000 1 2018 2018
dbSNP: rs28937581
rs28937581
DYSF
9 0.827 0.160 2 71570300 missense variant G/T snv 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs797045164
rs797045164
KIF1A
8 0.851 0.120 2 240785063 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs267607261
rs267607261
MPV17
28 0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 0.700 0
dbSNP: rs368900406
rs368900406
MPV17
27 0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs587776917
rs587776917
ECEL1
13 0.776 0.200 2 232485937 stop gained -/T delins 0.700 0
dbSNP: rs886041287
rs886041287
TTN ; TTN-AS1
8 0.882 0.160 2 178535594 frameshift variant -/GT delins 0.700 0
dbSNP: rs10510181
rs10510181
CHL1-AS2
4 0.882 0.200 3 149364 intron variant G/A snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs1400180
rs1400180
CHL1-AS2 ; LOC107986057
1 1.000 0.040 3 129285 intron variant T/G snv 0.37 0.700 1.000 1 2011 2011
dbSNP: rs1400182
rs1400182
CHL1-AS2 ; LOC107986057
1 1.000 0.040 3 128928 intron variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1568097
rs1568097
CHL1-AS2
1 1.000 0.040 3 138468 intron variant T/C snv 0.42 0.700 1.000 1 2011 2011
dbSNP: rs1588962
rs1588962
CHL1-AS2
1 1.000 0.040 3 142352 intron variant T/C snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs17326792
rs17326792
CHL1-AS2 ; LOC107986057
1 1.000 0.040 3 131073 non coding transcript exon variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1878169
rs1878169
CHL1-AS2 ; LOC107986057
1 1.000 0.040 3 123429 intron variant A/T snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs4684051
rs4684051
CHL1-AS2
1 1.000 0.040 3 136842 intron variant A/G snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs7639674
rs7639674
CHL1-AS2 ; LOC107986057
1 1.000 0.040 3 130837 non coding transcript exon variant A/T snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs965084
rs965084
CHL1-AS2 ; LOC107986057
1 1.000 0.040 3 125415 intron variant G/C snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs9819101
rs9819101
CHL1-AS2 ; LOC107986057
1 1.000 0.040 3 124824 intron variant G/A;C snv 0.35 0.700 1.000 1 2011 2011
dbSNP: rs121913482
rs121913482
FGFR3
45 0.630 0.680 4 1801837 missense variant C/T snv 0.010 1.000 1 2011 2011