MSH6, mutS homolog 6, 2956

N. diseases: 296; N. variants: 642
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1042821
rs1042821
0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1183989693
rs1183989693
2 47795920 missense variant G/A snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs2020912
rs2020912
0.807 0.480 2 47800616 missense variant T/C;G snv 5.1E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs63750111
rs63750111
0.882 0.200 2 47800914 stop gained C/A;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs63750741
rs63750741
0.827 0.200 2 47799329 missense variant T/C snv 1.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs730881791
rs730881791
2 47799644 missense variant G/A snv 4.0E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs863225401
rs863225401
0.925 0.040 2 47799866 stop gained G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2018 2018