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
dbSNP: rs121913574
rs121913574
LAMA2
2 0.925 0.120 6 129190317 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs121913575
rs121913575
LAMA2
2 0.925 0.120 6 129353285 stop gained C/T snv 8.0E-06 0.700 0
dbSNP: rs121913576
rs121913576
LAMA2
2 0.925 0.120 6 129464444 stop gained C/A;T snv 8.0E-06; 2.4E-05 0.700 0
dbSNP: rs1554269966
rs1554269966
LAMA2
3 0.882 0.120 6 129315952 splice donor variant T/C snv 0.700 0
dbSNP: rs1415944134
rs1415944134
LAMA2
1 1.000 0.120 6 129393095 frameshift variant G/-;GG delins 0.700 1.000 2 2010 2018
dbSNP: rs776548207
rs776548207
LAMA2
1 1.000 0.120 6 129453078 frameshift variant G/- del 0.700 0