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: rs80358240
rs80358240
MLC1
4 0.851 0.160 22 50064168 missense variant G/T snv 7.0E-06 0.030 1.000 3 2001 2003