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: rs9806323
rs9806323
FBN1
1 1.000 0.040 15 48473818 intron variant T/A snv 0.31 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: 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: 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: 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: 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: 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: 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: 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: 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: rs8034591
rs8034591
FBN1
1 1.000 0.040 15 48432571 intron variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs8026752
rs8026752
FBN1
1 1.000 0.040 15 48531573 intron variant A/G snv 0.18 0.700 1.000 1 2011 2011
dbSNP: rs7866503
rs7866503
CDKN2B-AS1
3 0.882 0.080 9 22091925 intron variant G/T snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs7184016
rs7184016
FBN1
1 1.000 0.040 15 48518302 intron variant G/T snv 0.33 0.700 1.000 1 2011 2011
dbSNP: rs7173410
rs7173410 		1 1.000 0.040 15 48659577 downstream gene variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs7173026
rs7173026 		1 1.000 0.040 15 48659353 downstream gene variant C/T snv 0.75 0.700 1.000 1 2011 2011
dbSNP: rs714290
rs714290
FBN1
1 1.000 0.040 15 48459132 intron variant C/G snv 0.69 0.700 1.000 1 2011 2011
dbSNP: rs682938
rs682938
FBN1
1 1.000 0.040 15 48572170 intron variant A/G snv 0.47 0.700 1.000 1 2011 2011
dbSNP: rs6493333
rs6493333
FBN1 ; LOC105370809
2 0.925 0.040 15 48646849 intron variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs6493328
rs6493328
FBN1
1 1.000 0.040 15 48527305 intron variant G/A snv 0.49 0.700 1.000 1 2011 2011
dbSNP: rs6493327
rs6493327
FBN1
1 1.000 0.040 15 48517231 intron variant G/A snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs595244
rs595244
FBN1
3 0.882 0.080 15 48548638 intron variant C/T snv 7.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs589668
rs589668
FBN1
1 1.000 0.040 15 48543738 intron variant C/T snv 0.33 0.700 1.000 1 2011 2011
dbSNP: rs4775771
rs4775771
CEP152
1 1.000 0.040 15 48668393 regulatory region variant G/T snv 0.73 0.700 1.000 1 2011 2011
dbSNP: rs4775770
rs4775770
LOC105370809
1 1.000 0.040 15 48652366 downstream gene variant A/G;T snv 0.700 1.000 1 2011 2011