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: rs119456966
rs119456966
SIL1
1 1.000 0.080 5 138947191 stop gained G/A snv 0.700 0
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 2011 2011
dbSNP: rs119456965
rs119456965
SIL1
3 1.000 0.080 5 139050960 stop gained G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs119456967
rs119456967
SIL1
1 1.000 0.080 5 138947133 missense variant A/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2011 2011
dbSNP: rs149242794
rs149242794
SIL1
1 1.000 0.080 5 139051017 missense variant G/A snv 4.9E-03 9.7E-04 0.010 1.000 1 2019 2019
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
30 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs397517132
rs397517132
EGFR
48 0.623 0.280 7 55191846 missense variant A/T snv 0.010 1.000 1 2011 2011