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: rs766648827
rs766648827
POMT1
3 0.882 0.120 9 131509809 splice donor variant G/C;T snv 4.0E-06 7.0E-06 0.700 1.000 5 2002 2012