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: rs8034829
rs8034829
FBN1
1 1.000 0.040 15 48513830 intron variant T/C snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs8038489
rs8038489
CEP152
1 1.000 0.040 15 48664070 upstream gene variant T/C snv 0.73 0.700 1.000 1 2011 2011
dbSNP: rs8038940
rs8038940
CEP152
1 1.000 0.040 15 48681700 regulatory region variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs8041668
rs8041668
FBN1
1 1.000 0.040 15 48543158 intron variant T/C snv 0.62 0.700 1.000 1 2011 2011
dbSNP: rs8087799
rs8087799 		3 0.882 0.080 18 22605468 regulatory region variant G/A snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs919433
rs919433
ANKRD44 ; ANKRD44-IT1
3 0.882 0.080 2 197301841 intron variant G/A snv 0.38 0.700 1.000 1 2016 2016
dbSNP: rs920184
rs920184
FBN1
1 1.000 0.040 15 48600742 intron variant C/T snv 0.40 0.700 1.000 1 2011 2011
dbSNP: rs931782
rs931782
CEP152
1 1.000 0.040 15 48662569 non coding transcript exon variant A/T snv 0.66 0.700 1.000 1 2011 2011
dbSNP: rs9806163
rs9806163
FBN1
1 1.000 0.040 15 48511642 intron variant T/C snv 0.37 0.700 1.000 1 2011 2011
dbSNP: rs9806323
rs9806323
FBN1
1 1.000 0.040 15 48473818 intron variant T/A snv 0.31 0.700 1.000 1 2011 2011