MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Marinesco-Sjogren syndrome ×
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: rs1800734
rs1800734 		0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C0024814
Disease: Marinesco-Sjogren syndrome
Marinesco-Sjogren syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2019 2019