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: rs386834236
rs386834236
GAA
6 0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03 0.700 1.000 18 1988 2015
dbSNP: rs1553263326
rs1553263326
NTRK1
2 1.000 1 156881446 intron variant G/A snv 0.700 1.000 3 2012 2017
dbSNP: rs1318353774
rs1318353774
CACNA1A
2 1.000 19 13298827 stop gained G/A;C snv 0.700 1.000 46 1988 2017
dbSNP: rs137854562
rs137854562
NF1
4 0.925 0.120 17 31235623 stop gained C/T snv 0.700 1.000 34 1967 2017
dbSNP: rs1554698878
rs1554698878
HNRNPK
4 0.925 9 83971976 stop gained G/A snv 0.700 1.000 30 1996 2018
dbSNP: rs113001196
rs113001196
FBN1
5 0.882 0.160 15 48432947 stop gained G/A snv 0.700 1.000 29 1986 2016
dbSNP: rs1555899379
rs1555899379
SON
2 1.000 21 33554726 stop gained CTG/- del 0.700 1.000 28 1988 2016
dbSNP: rs1555188379
rs1555188379
KMT2D
1 12 49032761 stop gained G/A snv 0.700 1.000 25 1988 2017
dbSNP: rs574622908
rs574622908
KMT2D
2 1.000 12 49046358 stop gained G/C;T snv 4.0E-06 0.700 1.000 25 1988 2017
dbSNP: rs587783685
rs587783685
KMT2D
5 0.925 0.120 12 49032113 stop gained G/A snv 0.700 1.000 25 1988 2017
dbSNP: rs781978013
rs781978013
KMT2A
3 1.000 11 118472681 stop gained G/A;T snv 4.0E-06 0.700 1.000 22 1989 2017
dbSNP: rs1557082399
rs1557082399
ATRX
4 1.000 X 77593803 stop gained C/T snv 0.700 1.000 21 1992 2017
dbSNP: rs1554234424
rs1554234424
ARID1B
2 1.000 6 157196295 stop gained T/A snv 0.700 1.000 20 1984 2017
dbSNP: rs797045282
rs797045282
ARID1B
2 1.000 0.280 6 157206545 stop gained C/T snv 0.700 1.000 20 1984 2017
dbSNP: rs875989879
rs875989879
CHD7
3 0.925 0.080 8 60853017 stop gained C/T snv 0.700 1.000 20 1999 2016
dbSNP: rs886041166
rs886041166
CHD7
3 1.000 8 60742366 stop gained C/T snv 0.700 1.000 20 1999 2016
dbSNP: rs1314314373
rs1314314373
BCL11B
4 1.000 14 99176115 stop gained G/A;C snv 4.1E-06 0.700 1.000 19 2003 2016
dbSNP: rs1348892740
rs1348892740
NOTCH1
1 9 136523954 stop gained G/A snv 6.2E-06 0.700 1.000 19 1999 2019
dbSNP: rs1554826746
rs1554826746
NOTCH1
1 9 136499244 stop gained G/A snv 0.700 1.000 19 1999 2019
dbSNP: rs1553153365
rs1553153365
HNRNPR
2 1 23310702 stop gained G/A snv 0.700 1.000 18 1998 2014
dbSNP: rs1555475250
rs1555475250
CREBBP
1 16 3744921 stop gained G/A snv 0.700 1.000 18 1963 2017
dbSNP: rs1556308480
rs1556308480
KDM6A
2 1.000 X 45059287 stop gained C/T snv 0.700 1.000 17 1998 2016
dbSNP: rs1555240361
rs1555240361
MED13L
2 1.000 12 115966138 stop gained G/A snv 0.700 1.000 16 1971 2018
dbSNP: rs1555248020
rs1555248020
MED13L
3 1.000 12 116009052 stop gained G/C snv 0.700 1.000 16 1971 2018
dbSNP: rs147334255
rs147334255
MN1
3 1.000 22 27750995 stop gained G/A snv 0.700 1.000 14 1995 2014