Source: BEFREE

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: rs63749795
rs63749795
MLH1
0.807 0.240 3 37028833 stop gained C/T snv
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.710 1.000 1 2019 2019
dbSNP: rs63749795
rs63749795
MLH1
0.807 0.240 3 37028833 stop gained C/T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2020 2020
dbSNP: rs63749795
rs63749795
MLH1
0.807 0.240 3 37028833 stop gained C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2020 2020