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: rs137854486
rs137854486
1 1.000 0.120 2 215376612 missense variant A/T snv 0.800 1.000 1 2008 2008
dbSNP: rs137854487
rs137854487
1 1.000 0.120 2 215375685 missense variant A/C;G snv 0.800 1.000 1 2008 2008
dbSNP: rs137854488
rs137854488
FN1
1 1.000 0.120 2 215406306 missense variant T/C snv 0.800 1.000 1 2008 2008
dbSNP: rs869025198
rs869025198
1 1.000 0.120 2 215376610 missense variant C/G snv 0.700 0
dbSNP: rs869025199
rs869025199
FN1
1 1.000 0.120 2 215386884 inframe deletion GAG/- delins 0.700 0