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: rs1057517456
rs1057517456
MUTYH
1 1.000 0.120 1 45331769 frameshift variant T/- del 0.700 0
dbSNP: rs1057517457
rs1057517457
MUTYH
6 0.851 0.120 1 45332804 frameshift variant GCCAGCCCAG/- delins 7.0E-06 0.700 0
dbSNP: rs1057517459
rs1057517459
MUTYH
1 1.000 0.120 1 45330558 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1060501321
rs1060501321
MUTYH
1 1.000 0.120 1 45331476 stop gained C/A snv 0.700 0
dbSNP: rs1060501324
rs1060501324
MUTYH
1 1.000 0.120 1 45331800 stop gained C/T snv 0.700 0
dbSNP: rs1060501325
rs1060501325
MUTYH
1 1.000 0.120 1 45331462 stop gained C/T snv 0.700 0
dbSNP: rs1060501333
rs1060501333
MUTYH
1 1.000 0.120 1 45332164 splice donor variant A/C snv 0.700 0
dbSNP: rs1060501335
rs1060501335
MUTYH
2 0.925 0.120 1 45331684 missense variant A/G snv 0.800 0
dbSNP: rs1060501336
rs1060501336
MUTYH
1 1.000 0.120 1 45334446 frameshift variant T/- delins 0.700 0
dbSNP: rs1064793197
rs1064793197
MUTYH
1 1.000 0.120 1 45332458 frameshift variant GTGCTA/AGCAGCTG delins 0.700 0
dbSNP: rs1064795480
rs1064795480
MUTYH
1 1.000 0.120 1 45331422 frameshift variant C/- delins 0.700 0
dbSNP: rs1064796630
rs1064796630
MUTYH
1 1.000 0.120 1 45332576 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs1338038953
rs1338038953
MUTYH
1 1.000 0.120 1 45332310 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs146331482
rs146331482
MUTYH
1 1.000 0.120 1 45331197 frameshift variant G/-;GGG delins 0.700 0
dbSNP: rs1553125100
rs1553125100
MUTYH
1 1.000 0.120 1 45331262 frameshift variant -/T delins 0.700 0
dbSNP: rs1553125914
rs1553125914
MUTYH
2 1.000 0.120 1 45331512 frameshift variant -/TC delins 0.700 0
dbSNP: rs1553127825
rs1553127825
MUTYH
1 1.000 0.120 1 45332290 frameshift variant A/CT delins 0.700 0
dbSNP: rs1553128813
rs1553128813
MUTYH
1 1.000 0.120 1 45332780 stop gained G/A snv 0.700 0
dbSNP: rs1553129638
rs1553129638
MUTYH
1 1.000 0.120 1 45333138 frameshift variant G/- delins 0.700 0
dbSNP: rs1553129652
rs1553129652
MUTYH
1 1.000 0.120 1 45333152 frameshift variant -/TGACCTCTGAGACC delins 0.700 0
dbSNP: rs1553129892
rs1553129892
MUTYH
2 1.000 0.120 1 45333321 stop gained C/A;T snv 0.700 0
dbSNP: rs1557451154
rs1557451154
MUTYH
1 1.000 0.120 1 45330517 protein altering variant ATACAGGT/TGGGCTGTTGG delins 0.700 0
dbSNP: rs1557487793
rs1557487793
MUTYH
1 1.000 0.120 1 45333583 stop gained C/A snv 0.700 0
dbSNP: rs200165598
rs200165598
MUTYH
1 1.000 0.120 1 45332479 missense variant C/T snv 7.6E-05 1.5E-04 0.700 0
dbSNP: rs35352891
rs35352891
MUTYH
5 0.827 0.200 1 45331729 missense variant G/A snv 3.8E-04 1.1E-04 0.700 0