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: rs1554110735
rs1554110735
TFAP2A
13 0.776 0.200 6 10398693 frameshift variant TT/- delins 0.700 0
dbSNP: rs793888541
rs793888541
TFAP2A ; TFAP2A-AS2
7 0.807 0.120 6 10404631 missense variant A/T snv 0.700 1.000 1 2015 2015
dbSNP: rs587777893
rs587777893
MTOR
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 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 2 2001 2006
dbSNP: rs121918455
rs121918455
PTPN11
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 1.000 4 2002 2009
dbSNP: rs397507539
rs397507539
PTPN11
8 0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs397507540
rs397507540
PTPN11
8 0.851 0.160 12 112489048 missense variant C/A;T snv 0.700 0
dbSNP: rs397507547
rs397507547
PTPN11
14 0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
37 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
dbSNP: rs121918494
rs121918494
FGFR2
25 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
dbSNP: rs1564919048
rs1564919048
FGFR2
23 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
dbSNP: rs559979281
rs559979281
CLASP1 ; RNU4ATAC ; LOC107985942
23 0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04 0.700 0
dbSNP: rs863225422
rs863225422
CLASP1 ; RNU4ATAC ; LOC107985942
23 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
dbSNP: rs886039792
rs886039792
TXNDC15
9 0.807 0.280 5 134874531 splice donor variant G/A snv 0.700 0
dbSNP: rs886041093
rs886041093
EHMT1
7 0.827 0.280 9 137815998 missense variant G/A snv 0.700 0
dbSNP: rs121913355
rs121913355
BRAF
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs1135401744
rs1135401744
KYNU
14 0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 0.700 1.000 1 2017 2017
dbSNP: rs1557045296
rs1557045296
SLC6A8
4 1.000 X 153693971 missense variant C/T snv 0.700 0
dbSNP: rs1557781252
rs1557781252
GATAD2B
33 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
dbSNP: rs28934907
rs28934907
MECP2
30 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
dbSNP: rs1553525325
rs1553525325
SCN1A ; SCN1A-AS1 ; LOC102724058
9 0.807 0.120 2 166002716 missense variant A/T snv 0.700 0
dbSNP: rs1554199368
rs1554199368
NSD1
12 0.827 0.160 5 177256956 missense variant C/T snv 0.700 0
dbSNP: rs80338945
rs80338945
GJB2
32 0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 0.700 0
dbSNP: rs1057518914
rs1057518914
RPS6KA3
14 0.790 0.160 X 20193547 missense variant G/C snv 0.700 0
dbSNP: rs1034395178
rs1034395178
LZTR1
33 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018