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: rs11634866
rs11634866
FBN1
1 1.000 0.040 15 48482091 intron variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs1036477
rs1036477
FBN1
5 0.882 0.040 15 48622729 intron variant A/G snv 0.24 0.700 1.000 1 2011 2011
dbSNP: rs2099562
rs2099562 		1 1.000 0.040 15 48659080 downstream gene variant A/G snv 0.67 0.700 1.000 1 2011 2011
dbSNP: rs2303500
rs2303500
FBN1
1 1.000 0.040 15 48447077 intron variant A/G snv 0.67 0.700 1.000 1 2011 2011
dbSNP: rs2448485
rs2448485
FBN1
1 1.000 0.040 15 48567536 intron variant A/G snv 0.35 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: 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: rs12907144
rs12907144
CEP152
1 1.000 0.040 15 48692625 intergenic variant A/G;T snv 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
dbSNP: rs2303502
rs2303502
FBN1
1 1.000 0.040 15 48444487 intron variant A/T snv 0.66 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: rs2043682
rs2043682
CEP152
1 1.000 0.040 15 48665546 upstream gene variant C/A snv 0.66 0.700 1.000 1 2011 2011
dbSNP: rs2045891
rs2045891
CEP152
1 1.000 0.040 15 48695522 regulatory region variant C/A;T snv 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: 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: rs8034591
rs8034591
FBN1
1 1.000 0.040 15 48432571 intron variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs10851469
rs10851469
CEP152
1 1.000 0.040 15 48676216 intergenic variant C/T snv 0.68 0.700 1.000 1 2011 2011
dbSNP: rs12910178
rs12910178
CEP152
1 1.000 0.040 15 48696754 regulatory region variant C/T snv 0.70 0.700 1.000 1 2011 2011
dbSNP: rs1566816
rs1566816
CEP152
1 1.000 0.040 15 48673021 intergenic variant C/T snv 0.74 0.700 1.000 1 2011 2011
dbSNP: rs16961065
rs16961065
FBN1
1 1.000 0.040 15 48514342 intron variant C/T snv 0.16 0.700 1.000 1 2011 2011
dbSNP: rs2042747
rs2042747
FBN1
1 1.000 0.040 15 48436437 intron variant C/T snv 0.66 0.700 1.000 1 2011 2011
dbSNP: rs2126905
rs2126905
CEP152
1 1.000 0.040 15 48695847 regulatory region variant C/T snv 0.81 0.700 1.000 1 2011 2011
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: 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: rs7173026
rs7173026 		1 1.000 0.040 15 48659353 downstream gene variant C/T snv 0.75 0.700 1.000 1 2011 2011