Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 34
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 10
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 9
rs63750250
PMS2
0.807 0.280 7 5986933 frameshift variant -/T delins 1.6E-05 4.2E-05 9
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 8
rs869312821
GNB1
0.882 0.120 1 1806515 missense variant T/C snv 7
rs1057519753
JAK1
0.763 0.120 1 64846664 missense variant C/A snv 4
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 4
rs587782545
NBN
0.882 0.160 8 89947835 stop gained T/A snv 3.9E-05 2.1E-05 4
rs730881864
NBN
0.882 0.160 8 89943297 stop gained G/A;C snv 2.4E-05; 4.0E-05 4
rs767215758
NBN
0.882 0.160 8 89958819 stop gained G/A snv 8.0E-06 4
rs767454740
NBN
0.882 0.320 8 89982736 frameshift variant AA/- delins 7.0E-06 4
rs121913459
ABL1
0.672 0.160 9 130872896 missense variant C/T snv 3
rs724159947
ETV6
0.851 0.120 12 11869601 missense variant C/T snv 3
rs786205154
ETV6
1.000 0.120 12 11885921 coding sequence variant GAACA/- delins 3
rs387906517
ABL1
0.827 0.120 9 130862919 missense variant G/A snv 2
rs587781823
ATM
0.851 0.280 11 108284370 frameshift variant -/T delins 2
rs200928781
CHEK2
0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05 2
rs786205155
ETV6
0.882 0.120 12 11884481 missense variant T/C snv 2
rs121909646
FLT3
0.882 0.120 13 28018504 missense variant T/A;G snv 2
rs121913488
FLT3
0.807 0.120 13 28018505 missense variant C/A;G;T snv 2
rs869312953
JAK1
0.851 0.120 1 64846735 missense variant G/T snv 2
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 2