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: rs1564365317
rs1564365317
POMT1
3 0.882 0.120 9 131515524 splice donor variant T/C snv 0.700 1.000 3 2002 2006