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: rs914395925
rs914395925
LAMA2 ; LOC102723409
1 1.000 0.120 6 129502657 splice acceptor variant A/G snv 0.700 1.000 2 2014 2018