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: rs2020912
rs2020912
0.807 0.480 2 47800616 missense variant T/C;G snv 5.1E-03
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 2 2000 2004
dbSNP: rs63750664
rs63750664
0.882 0.200 2 47783292 missense variant C/A;T snv 4.1E-06; 9.4E-05
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 2 2000 2004
dbSNP: rs63750741
rs63750741
0.827 0.200 2 47799329 missense variant T/C snv 1.2E-05
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 2 2000 2004
dbSNP: rs267608059
rs267608059
0.882 0.240 2 47801050 stop gained G/T snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs63749843
rs63749843
0.827 0.240 2 47803449 stop gained C/A;G;T snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs63749889
rs63749889
0.925 0.120 2 47800685 missense variant G/A snv 2.4E-05 7.0E-06
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs63749999
rs63749999
0.851 0.240 2 47801086 stop gained C/T snv 1.2E-05
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs63751017
rs63751017
0.851 0.240 2 47800714 stop gained C/A;T snv 1.4E-05
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs786201042
rs786201042
0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs876660943
rs876660943
0.882 0.240 2 47806359 splice donor variant G/T snv 7.0E-06
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs587781462
rs587781462
0.882 0.200 2 47800283 missense variant C/A;G;T snv 1.6E-05
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2019 2019
dbSNP: rs63750111
rs63750111
0.882 0.200 2 47800914 stop gained C/A;G snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2010 2010