MYSM1, Myb like, SWIRM and MPN domains 1, 114803

N. diseases: 37; N. variants: 3
Disease: BONE MARROW FAILURE SYNDROME 4 ×
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: rs1557507208
rs1557507208 		1.000 1 58667102 missense variant T/C snv
CUI: C4748257
Disease: BONE MARROW FAILURE SYNDROME 4
BONE MARROW FAILURE SYNDROME 4 		0.700 0
dbSNP: rs1557518298
rs1557518298 		1.000 1 58681876 stop gained C/A snv
CUI: C4748257
Disease: BONE MARROW FAILURE SYNDROME 4
BONE MARROW FAILURE SYNDROME 4 		0.700 0