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: rs587781462
rs587781462
0.882 0.200 2 47800283 missense variant C/A;G;T snv 1.6E-05
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
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: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2010 2010