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: rs1131690789
rs1131690789
RBM10
2 1.000 X 47181316 frameshift variant AG/- delins 0.700 0
dbSNP: rs1281877795
rs1281877795
MTIF2
2 1.000 2 55249467 frameshift variant CTTTTTTCACT/- delins 0.700 0
dbSNP: rs1553535063
rs1553535063
NDUFB3
1 2 201085517 frameshift variant T/- delins 0.700 0
dbSNP: rs1553878198
rs1553878198
RBPJ
2 1.000 4 26406245 missense variant C/G snv 0.700 0
dbSNP: rs1555605893
rs1555605893
SMARCE1
1 17 40637502 missense variant T/C snv 0.700 0
dbSNP: rs1555918056
rs1555918056
BCOR
1 X 40072918 stop gained G/A snv 0.700 0
dbSNP: rs1557189252
rs1557189252
FGD1
2 1.000 X 54465532 missense variant G/A snv 0.700 0
dbSNP: rs1563183469
rs1563183469
AUTS2
3 0.925 0.120 7 70766245 missense variant A/C snv 0.700 0
dbSNP: rs779617179
rs779617179
NRP2
1 2 205763747 frameshift variant T/- del 7.0E-06 0.700 0
dbSNP: rs1556019107
rs1556019107
PHF6
3 1.000 X 134415106 stop gained C/T snv 0.700 1.000 6 1962 2016
dbSNP: rs1555907749
rs1555907749
EP300
1 22 41131612 frameshift variant -/T delins 0.700 1.000 19 1963 2016
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: rs137854562
rs137854562
NF1
4 0.925 0.120 17 31235623 stop gained C/T snv 0.700 1.000 34 1967 2017
dbSNP: rs1555533842
rs1555533842
NF1
3 1.000 17 31330303 frameshift variant -/C delins 0.700 1.000 34 1967 2017
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: rs180177035
rs180177035
BRAF
35 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 8 1968 2013
dbSNP: rs869025340
rs869025340
BRAF
5 0.925 0.160 7 140777032 missense variant A/C;G;T snv 0.700 1.000 8 1968 2013
dbSNP: rs1556779417
rs1556779417
RBM10
3 1.000 X 47181541 frameshift variant GT/- delins 0.700 1.000 6 1970 2017
dbSNP: rs1555240361
rs1555240361
MED13L
2 1.000 12 115966138 stop gained G/A snv 0.700 1.000 16 1971 2018
dbSNP: rs1555240376
rs1555240376
MED13L
2 1.000 12 115966189 missense variant G/T snv 0.700 1.000 16 1971 2018