Gene: MFF-DT ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs200287952
rs200287952
COL4A3 ; MFF-DT
2 1.000 2 227277511 missense variant G/A snv 1.1E-04 1.5E-04 0.700 1.000 1 2019 2019
dbSNP: rs1285576172
rs1285576172
COL4A3 ; MFF-DT
1 2 227284345 missense variant G/A snv 0.010 1.000 1 2003 2003