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: rs1569459580
rs1569459580
PAK3
2 1.000 0.120 X 111196503 missense variant G/A snv 0.700 0
dbSNP: rs148634289
rs148634289
SDHD
6 0.827 0.200 11 112088925 synonymous variant C/T snv 1.6E-05 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs1250394819
rs1250394819
TMED7 ; TMED7-TICAM2 ; LOC101927100
9 0.807 0.240 5 115616325 missense variant C/T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs387907252
rs387907252
VAX1
3 0.882 0.160 10 117134559 missense variant G/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1555155556
rs1555155556
BORCS5
6 0.851 0.120 12 12435627 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1555696625
rs1555696625
NFIX
7 0.851 0.360 19 13025409 missense variant G/A snv 0.700 0
dbSNP: rs750195040
rs750195040
POMT1
12 0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 0.700 0
dbSNP: rs782785654
rs782785654
TMLHE ; TMLHE-AS1
2 1.000 0.120 X 155524537 missense variant G/A snv 5.5E-06 1.9E-05 0.700 0
dbSNP: rs1057518951
rs1057518951
ARID1B
5 0.827 0.160 6 156829296 stop gained C/T snv 0.700 0
dbSNP: rs797045277
rs797045277
ARID1B
5 0.882 0.280 6 157198907 splice region variant G/A snv 0.700 0
dbSNP: rs431905509
rs431905509
SLC25A1
8 0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 0.700 0
dbSNP: rs886039811
rs886039811
B9D1
6 0.807 0.320 17 19357875 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs11893842
rs11893842
INHA ; OBSL1
2 0.925 0.160 2 219572251 intron variant A/G snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs1563406024
rs1563406024
FZD3
4 0.851 0.240 8 28555799 frameshift variant -/A delins 0.700 0
dbSNP: rs568887534
rs568887534
DCTN6
9 0.807 0.240 8 30183156 missense variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs121907917
rs121907917
PAX6
6 0.807 0.240 11 31794079 stop gained G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs1555380716
rs1555380716
SLC12A6
5 0.882 0.120 15 34255385 frameshift variant -/C delins 0.700 0
dbSNP: rs1285675735
rs1285675735
SORD
6 0.827 0.200 15 45043384 synonymous variant C/G;T snv 1.1E-05; 1.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs1057523157
rs1057523157
SETD2
3 0.925 0.120 3 47088172 missense variant G/A snv 0.700 0
dbSNP: rs797045005
rs797045005
TUBA1A
4 0.851 0.320 12 49185140 missense variant A/G snv 0.700 0
dbSNP: rs1064796460
rs1064796460
TUBA1A
8 0.790 0.400 12 49185197 missense variant C/G;T snv 0.700 0
dbSNP: rs1057517858
rs1057517858
TUBA1A
3 0.925 0.240 12 49185714 missense variant C/A;T snv 0.700 0
dbSNP: rs1565627707
rs1565627707
TUBA1A
3 0.925 0.240 12 49186657 missense variant C/A snv 0.700 0
dbSNP: rs199590018
rs199590018
SYP
3 0.925 0.120 X 49193294 missense variant G/A snv 1.4E-04 7.5E-05 0.010 1.000 1 2017 2017
dbSNP: rs886041116
rs886041116
ADNP
13 0.776 0.240 20 50892526 stop gained G/A snv 0.700 0