Source: UNIPROT ×
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: rs121913364
rs121913364
BRAF
2 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.800 1.000 14 2002 2015
dbSNP: rs2020912
rs2020912
MSH6 ; FBXO11
3 0.807 0.480 2 47800616 missense variant T/C;G snv 5.1E-03 0.710 1.000 12 1999 2012
dbSNP: rs267608140
rs267608140
MSH6 ; FBXO11
2 0.925 0.160 2 47806838 missense variant T/A;C snv 0.700 1.000 12 1999 2012
dbSNP: rs63750157
rs63750157
MSH6 ; FBXO11
1 1.000 0.080 2 47804943 missense variant T/C snv 0.700 1.000 12 1999 2012
dbSNP: rs63750287
rs63750287
MSH6 ; FBXO11
1 1.000 0.080 2 47801045 missense variant C/A;G snv 8.4E-06 0.700 1.000 12 1999 2012
dbSNP: rs63750358
rs63750358
MSH6 ; FBXO11
1 1.000 0.080 2 47800037 missense variant G/C snv 0.700 1.000 12 1999 2012
dbSNP: rs63750389
rs63750389
MSH6 ; FBXO11
2 0.925 0.160 2 47800532 missense variant A/G snv 8.0E-06 0.700 1.000 12 1999 2012
dbSNP: rs63750442
rs63750442
MSH6 ; FBXO11
1 1.000 0.080 2 47803546 missense variant C/G;T snv 7.6E-05; 4.0E-05 0.700 1.000 12 1999 2012
dbSNP: rs63750617
rs63750617
MSH6 ; FBXO11
1 0.851 0.160 2 47803473 missense variant C/G;T snv 4.0E-06; 9.5E-05 0.700 1.000 12 1999 2012
dbSNP: rs63750637
rs63750637
MSH6 ; FBXO11
1 1.000 0.080 2 47800343 missense variant C/G;T snv 0.700 1.000 12 1999 2012
dbSNP: rs63750664
rs63750664
MSH6
3 0.882 0.200 2 47783292 missense variant C/A;T snv 4.1E-06; 9.4E-05 0.700 1.000 12 1999 2012
dbSNP: rs63750741
rs63750741
MSH6 ; FBXO11
2 0.827 0.200 2 47799329 missense variant T/C snv 1.2E-05 0.700 1.000 12 1999 2012
dbSNP: rs137853148
rs137853148
PDGFRL
1 1.000 0.080 8 17589479 missense variant C/T snv 0.800 1.000 11 1995 2015
dbSNP: rs267607894
rs267607894
MLH1
1 0.925 0.160 3 37050628 missense variant T/A;C snv 0.700 1.000 11 1996 2008
dbSNP: rs63750217
rs63750217
MLH1
2 0.807 0.240 3 37048955 missense variant G/A;C snv 0.700 1.000 11 1996 2008
dbSNP: rs63750303
rs63750303
MLH1
2 0.882 0.160 3 37014485 missense variant G/A;T snv 0.700 1.000 11 1996 2008
dbSNP: rs63750437
rs63750437
MLH1
1 0.925 0.160 3 37000977 missense variant G/A;C snv 0.700 1.000 11 1996 2008
dbSNP: rs63750449
rs63750449
MLH1
2 0.925 0.120 3 37047640 missense variant A/C;G;T snv 3.5E-03; 8.4E-05 0.700 1.000 11 1996 2008
dbSNP: rs63750498
rs63750498
MLH1
1 1.000 0.080 3 37028789 missense variant G/A;T snv 2.4E-05 0.700 1.000 11 1996 2008
dbSNP: rs63750718
rs63750718
MLH1
1 1.000 0.080 3 37047589 missense variant A/G snv 0.700 1.000 11 1996 2008
dbSNP: rs113488022
rs113488022
BRAF
1 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.900 0.975 10 2004 2020
dbSNP: rs121913400
rs121913400
CTNNB1
4 0.683 0.360 3 41224610 missense variant C/A;G;T snv 0.800 1.000 10 2006 2015
dbSNP: rs180177032
rs180177032
BRAF
1 1.000 0.080 7 140781623 missense variant C/A snv 0.800 1.000 10 2006 2015
dbSNP: rs180177033
rs180177033
BRAF
1 1.000 0.080 7 140781620 missense variant A/C snv 0.800 1.000 10 2006 2015
dbSNP: rs121913348
rs121913348
BRAF
1 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.800 1.000 4 2002 2014