MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
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: rs876658657
rs876658657
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2015 2019
dbSNP: rs1799977
rs1799977
0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1800734
rs1800734
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015