Gene: LAMA2 ×
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: rs1554301637
rs1554301637
LAMA2
3 0.925 0.120 6 129464289 splice acceptor variant TCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCTG/- delins 0.700 0
dbSNP: rs1562530132
rs1562530132
LAMA2
1 1.000 0.120 6 129401238 frameshift variant T/- del 0.700 0
dbSNP: rs121913572
rs121913572
LAMA2
3 0.882 0.120 6 129481422 stop gained C/G;T snv 5.2E-05 3.5E-05 0.010 1.000 1 2003 2003