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: 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: rs1057518789
rs1057518789
CREBBP
2 0.925 0.040 16 3728803 stop gained G/A snv 0.700 0
dbSNP: rs1057518828
rs1057518828
GFAP
1 1.000 0.040 17 44911317 missense variant T/G snv 0.700 0
dbSNP: rs1064793575
rs1064793575
SLC9A6
6 0.925 0.040 X 136016706 frameshift variant GT/- delins 0.700 0
dbSNP: rs1350968647
rs1350968647
MYH3
5 0.851 0.080 17 10642825 splice donor variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1567558314
rs1567558314
MYH3
7 0.807 0.080 17 10643215 intron variant CTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTT/- delins 0.700 0
dbSNP: rs763944786
rs763944786
RYR1
5 0.925 0.080 19 38469119 missense variant C/T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs281865136
rs281865136
EGR2
3 0.882 0.120 10 62813562 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs61751364
rs61751364
MECP2
4 0.882 0.120 X 154030944 frameshift variant CGGAT/- delins 0.010 1.000 1 2010 2010
dbSNP: rs797045164
rs797045164
KIF1A
8 0.851 0.120 2 240785063 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs864622273
rs864622273
EGR2
3 0.882 0.120 10 62813412 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1057518891
rs1057518891
CHD7
6 0.851 0.120 8 60854479 stop gained C/T snv 0.700 0
dbSNP: rs1057518908
rs1057518908
COL2A1
6 0.882 0.120 12 47984112 missense variant C/T snv 0.700 0
dbSNP: rs1567552713
rs1567552713
MYH3
7 0.827 0.120 17 10633590 splice donor variant C/T snv 0.700 0
dbSNP: rs1567564042
rs1567564042
MYH3
6 0.827 0.120 17 10654924 stop gained A/C snv 0.700 0
dbSNP: rs771785420
rs771785420
GAN
8 0.851 0.120 16 81357848 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs786204875
rs786204875
PTEN
4 0.882 0.120 10 87960913 stop gained G/A;T snv 0.700 0
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: rs1057519320
rs1057519320
FBN1
7 0.807 0.160 15 48444574 missense variant G/A snv 0.010 1.000 1 2018 2018
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: rs1114167445
rs1114167445
SPTBN4
15 0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1555682265
rs1555682265
DCC
5 0.851 0.160 18 52923796 frameshift variant TTTCTGG/- delins 0.700 1.000 1 2017 2017
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: rs1085307132
rs1085307132
PUF60 ; SCRIB
5 0.882 0.160 8 143817668 frameshift variant -/TTTT delins 0.700 0
dbSNP: rs1085308052
rs1085308052
PTEN
5 0.851 0.160 10 87952144 frameshift variant -/T delins 0.700 0