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: rs2011503
rs2011503
MAU2
1 1.000 0.040 19 19333177 intron variant T/C;G snv 0.800 1.000 1 2014 2014