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: rs121918274
rs121918274
ROBO3
3 0.882 0.200 11 124870650 missense variant G/A;C snv 1.2E-05; 4.0E-06 0.010 1.000 1 2006 2006
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: rs1057519321
rs1057519321
FBN2
7 0.807 0.160 5 128349391 missense variant C/A;T snv 0.010 1.000 1 2018 2018
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: 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: 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: 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: rs1060505041
rs1060505041
NACC1
34 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
dbSNP: rs1564341846
rs1564341846
POMT1
8 0.790 0.280 9 131508926 missense variant C/A snv 0.700 0
dbSNP: rs797044849
rs797044849
GRIN2B
17 0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs1555103652
rs1555103652
GRIN2B
11 0.882 0.240 12 13569973 missense variant A/C snv 0.700 0
dbSNP: rs1064793575
rs1064793575
SLC9A6
6 0.925 0.040 X 136016706 frameshift variant GT/- delins 0.700 0
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: 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: rs431905504
rs431905504
SLC6A3
9 0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06 0.700 1.000 1 2012 2012
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: rs6570507
rs6570507
ADGRG6
13 0.827 0.240 6 142358435 intron variant G/A snv 0.47 0.800 1.000 1 2013 2013
dbSNP: rs1085307132
rs1085307132
PUF60 ; SCRIB
5 0.882 0.160 8 143817668 frameshift variant -/TTTT 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: rs1557055405
rs1557055405
ABCD1
21 0.807 0.400 X 153743532 missense variant T/A snv 0.700 1.000 1 1998 1998
dbSNP: rs267608327
rs267608327
MECP2
25 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
dbSNP: rs28935468
rs28935468
MECP2
17 0.732 0.240 X 154030912 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs61751364
rs61751364
MECP2
4 0.882 0.120 X 154030944 frameshift variant CGGAT/- delins 0.010 1.000 1 2010 2010
dbSNP: rs61751362
rs61751362
MECP2
14 0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 0.020 1.000 2 2006 2010
dbSNP: rs61750240
rs61750240
MECP2
19 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.010 1.000 1 2017 2017