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: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 1994 1994
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2003 2003
dbSNP: rs1284410244
rs1284410244
VEGFA
4 0.925 0.040 6 43778482 missense variant A/G snv 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs765431049
rs765431049
GNGT1 ; TFPI2 ; LOC105375401
4 0.925 0.040 7 93890271 missense variant C/T snv 1.6E-05 0.010 1.000 1 2004 2004
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs121913499
rs121913499
IDH1
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs889472
rs889472
LOC101928230
3 0.925 0.040 16 79612092 intergenic variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs769642939
rs769642939
MAP2K7
2 0.925 0.040 19 7911304 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2019 2019