Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912965
rs121912965
MLH1 ; EPM2AIP1
0.882 0.200 3 36993651 missense variant TG/AC mnv
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 1.000 7 1995 2015
dbSNP: rs121434629
rs121434629
PMS2
0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 0
dbSNP: rs267608161
rs267608161
PMS2
0.851 0.200 7 5982885 missense variant C/T snv 4.0E-05 2.8E-05
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.710 1.000 5 1995 2016
dbSNP: rs587779338
rs587779338
PMS2
0.851 0.200 7 5977589 missense variant G/A snv 1.0E-05 2.1E-05
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.700 1.000 9 1995 2016
dbSNP: rs188006077
rs188006077
PMS2
1.000 0.160 7 6003724 missense variant G/A snv 1.3E-05
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.700 1.000 5 1995 2016
dbSNP: rs200726484
rs200726484
PMS2
1.000 0.160 7 5987456 missense variant G/A snv 1.2E-05 2.1E-05
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.700 1.000 5 1995 2016
dbSNP: rs368516768
rs368516768
PMS2
1.000 0.160 7 5987255 missense variant C/G snv 2.8E-05 6.3E-05
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.700 1.000 5 1995 2016
dbSNP: rs587779328
rs587779328
PMS2
1.000 0.160 7 5987302 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.700 1.000 5 1995 2016
dbSNP: rs587779342
rs587779342
PMS2
0.925 0.200 7 5999199 missense variant T/G snv 8.0E-06
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.700 1.000 5 1995 2016
dbSNP: rs587779345
rs587779345
PMS2
0.925 0.200 7 5997342 missense variant G/C snv 4.0E-06
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.700 1.000 5 1995 2016
dbSNP: rs587779346
rs587779346
PMS2
1.000 0.160 7 5992040 missense variant A/C snv
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.700 1.000 5 1995 2016
dbSNP: rs63750685
rs63750685
PMS2
0.925 0.200 7 5987328 missense variant G/A;C snv 1.6E-05; 4.2E-03
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.700 1.000 5 1995 2016
dbSNP: rs769554577
rs769554577
PMS2
1.000 0.160 7 6004025 missense variant A/G snv 1.6E-05 4.2E-05
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.700 1.000 5 1995 2016
dbSNP: rs63750947
rs63750947
PMS2
0.925 0.200 7 5987012 missense variant G/T snv 8.0E-06 1.4E-05
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.700 0