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: rs121434414
rs121434414
PLOD3
1 1.000 0.120 7 101215100 missense variant T/C snv 8.0E-06 1.4E-05 0.800 1.000 3 2008 2019
dbSNP: rs748105435
rs748105435
PLOD3
1 1.000 0.120 7 101207623 stop gained A/C snv 2.0E-05 0.700 1.000 1 2008 2008
dbSNP: rs1562894320
rs1562894320
PLOD3
1 1.000 0.120 7 101212912 missense variant G/A snv 0.700 0
dbSNP: rs786205872
rs786205872
PLOD3
1 1.000 0.120 7 101206427 frameshift variant A/- del 0.700 0