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: rs1554604059
rs1554604059
CHD7
1 8 60852866 frameshift variant AG/- delins 0.700 1.000 20 1999 2016
dbSNP: rs1554605030
rs1554605030
CHD7
1 8 60856559 frameshift variant -/T delins 0.700 1.000 20 1999 2016
dbSNP: rs28933386
rs28933386
PTPN11
15 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 20 1968 2016
dbSNP: rs397507520
rs397507520
PTPN11
39 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 1.000 20 1968 2016
dbSNP: rs397507529
rs397507529
PTPN11
5 0.851 0.160 12 112473031 missense variant A/G snv 7.0E-06 0.700 1.000 20 1968 2016
dbSNP: rs397507531
rs397507531
PTPN11
18 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 1.000 20 1968 2016
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: rs886040988
rs886040988
CHD7
3 1.000 0.080 8 60830422 missense variant T/A 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: rs1553706324
rs1553706324
SCN5A
1 3 38614067 splice acceptor variant C/G snv 0.700 1.000 19 1998 2014
dbSNP: rs1554728529
rs1554728529
NOTCH1
3 1.000 9 136508989 frameshift variant A/- del 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: rs1555907749
rs1555907749
EP300
1 22 41131612 frameshift variant -/T delins 0.700 1.000 19 1963 2016
dbSNP: rs753044214
rs753044214
BPTF
2 1.000 17 67903835 frameshift variant A/-;AA delins 0.700 1.000 19 1995 2017
dbSNP: rs1553153365
rs1553153365
HNRNPR
2 1 23310702 stop gained G/A snv 0.700 1.000 18 1998 2014
dbSNP: rs1554121353
rs1554121353
SYNGAP1 ; MIR5004
2 6 33438527 frameshift variant A/- del 0.700 1.000 18 2004 2017
dbSNP: rs1555473499
rs1555473499
CREBBP
4 0.925 0.120 16 3738605 missense variant A/G snv 0.700 1.000 18 1963 2017
dbSNP: rs1555475250
rs1555475250
CREBBP
1 16 3744921 stop gained G/A snv 0.700 1.000 18 1963 2017
dbSNP: rs1555478331
rs1555478331
CREBBP
1 16 3757990 frameshift variant T/- del 0.700 1.000 18 1963 2017
dbSNP: rs1555984102
rs1555984102
DYRK1A ; LOC105372797
1 21 37490194 frameshift variant AT/- delins 0.700 1.000 18 1990 2016
dbSNP: rs1555990751
rs1555990751
DYRK1A
2 1.000 21 37505307 frameshift variant A/- delins 0.700 1.000 18 1990 2016
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