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: rs1057519019
rs1057519019
LINS1
1 1.000 15 100573936 missense variant C/T snv 0.800 0
dbSNP: rs149644940
rs149644940
LINS1
1 1.000 15 100573695 stop gained A/C snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs587777225
rs587777225
LINS1
1 1.000 15 100573885 frameshift variant CATG/- del 0.700 0
dbSNP: rs587777226
rs587777226
LINS1
1 1.000 15 100573650 splice donor variant CTTTC/- delins 0.700 0