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: rs11635140
rs11635140
FBN1
2 1.000 0.040 15 48490366 intron variant T/A;C snv 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: rs1506523
rs1506523
CEP152
1 1.000 0.040 15 48675135 regulatory region variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs2015637
rs2015637
FBN1
1 1.000 0.040 15 48424656 intron variant T/C;G snv 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: rs2247876
rs2247876
FBN1
2 1.000 0.040 15 48639254 intron variant T/A;C 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: 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: rs7173410
rs7173410 		1 1.000 0.040 15 48659577 downstream gene variant C/A;T snv 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: 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: rs1036476
rs1036476
FBN1
1 1.000 0.040 15 48622578 intron variant T/C snv 7.5E-02 0.800 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: rs16960886
rs16960886 		1 1.000 0.040 15 48407289 downstream gene variant G/A snv 0.11 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: 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: 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: 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: rs1354738
rs1354738
FBN1
1 1.000 0.040 15 48591499 intron variant T/C snv 0.19 0.700 1.000 1 2011 2011
dbSNP: rs2118181
rs2118181
FBN1
6 0.851 0.040 15 48623687 intron variant T/C snv 0.23 0.700 1.000 1 2011 2011
dbSNP: rs1678983
rs1678983
FBN1
1 1.000 0.040 15 48638448 intron variant T/C snv 0.24 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: 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: rs7184016
rs7184016
FBN1
1 1.000 0.040 15 48518302 intron variant G/T snv 0.33 0.700 1.000 1 2011 2011