Source: CLINVAR ×
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: rs1568303086
rs1568303086
TCF4
5 0.882 0.320 18 55228877 missense variant C/A snv 0.700 1.000 2 2011 2014
dbSNP: rs1057516033
rs1057516033
KAT6B
9 0.807 0.400 10 75025250 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1060499548
rs1060499548
ABL1
27 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1135402740
rs1135402740
SMCHD1
4 0.925 0.240 18 2674018 missense variant T/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1554904772
rs1554904772
BRSK2
4 0.882 0.280 11 1443490 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1565573786
rs1565573786
DHH ; LOC105369759
6 0.807 0.160 12 49091165 stop gained G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1057518944
rs1057518944
NIPBL
9 0.807 0.280 5 36984990 frameshift variant CT/- delins 0.700 0
dbSNP: rs1057519389
rs1057519389
EBF3
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1057519925
rs1057519925
PIK3CA
23 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 0
dbSNP: rs1114167291
rs1114167291
ANKRD11
10 0.790 0.280 16 89281225 stop gained C/A snv 0.700 0
dbSNP: rs121918458
rs121918458
PTPN11
8 0.807 0.320 12 112489080 missense variant T/A;G snv 0.700 0
dbSNP: rs121918463
rs121918463
PTPN11
6 0.851 0.240 12 112477651 missense variant T/A;C;G snv 0.700 0
dbSNP: rs122445099
rs122445099
ATRX
6 0.827 0.400 X 77520832 stop gained G/A snv 0.700 0
dbSNP: rs1553329427
rs1553329427
SRD5A2
4 0.851 0.200 2 31580683 frameshift variant A/- del 0.700 0
dbSNP: rs1554199368
rs1554199368
NSD1
12 0.827 0.160 5 177256956 missense variant C/T snv 0.700 0
dbSNP: rs1554846212
rs1554846212
KAT6B ; DUPD1
9 0.851 0.160 10 75030037 missense variant C/T snv 0.700 0
dbSNP: rs1556425596
rs1556425596
COL6A1
37 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
dbSNP: rs1557569831
rs1557569831
SZT2
8 0.925 0.120 1 43431458 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1562134961
rs1562134961
PHIP ; IRAK1BP1
13 0.776 0.320 6 78969879 frameshift variant A/- delins 0.700 0
dbSNP: rs1565295267
rs1565295267
MYRF ; TMEM258
6 0.827 0.360 11 61774051 missense variant C/A snv 0.700 0
dbSNP: rs1566823361
rs1566823361
FGF14
18 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
dbSNP: rs180177135
rs180177135
PALB2
27 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
dbSNP: rs387906692
rs387906692
PRKAR1A ; FAM20A
8 0.752 0.480 17 68530405 stop gained C/T snv 0.700 0
dbSNP: rs397507520
rs397507520
PTPN11
34 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
dbSNP: rs587784105
rs587784105
NSD1
19 0.732 0.440 5 177235863 stop gained G/A snv 0.700 0