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: 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: rs1042078
rs1042078
FBN1
1 1.000 0.040 15 48410676 3 prime UTR variant G/A snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs10851470
rs10851470
CEP152
1 1.000 0.040 15 48678083 intergenic variant G/A snv 0.69 0.700 1.000 1 2011 2011
dbSNP: rs12442299
rs12442299
CEP152
1 1.000 0.040 15 48672170 regulatory region variant G/A snv 0.66 0.700 1.000 1 2011 2011
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: rs2289136
rs2289136
LOC105370809
1 1.000 0.040 15 48652075 downstream gene variant G/A snv 0.81 0.700 1.000 1 2011 2011
dbSNP: rs2306352
rs2306352
FBN1
1 1.000 0.040 15 48513440 intron variant G/A snv 0.37 0.700 1.000 1 2011 2011
dbSNP: rs2437946
rs2437946
FBN1
1 1.000 0.040 15 48633805 intron variant G/A snv 0.40 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: 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: 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: 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: 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: rs4774517
rs4774517
FBN1
3 0.882 0.040 15 48467094 intron variant G/T snv 0.34 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: 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: 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: rs2045889
rs2045889
CEP152
1 1.000 0.040 15 48692249 intergenic variant T/A snv 0.81 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: rs11635140
rs11635140
FBN1
2 1.000 0.040 15 48490366 intron variant T/A;C 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: 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: 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: rs1354738
rs1354738
FBN1
1 1.000 0.040 15 48591499 intron variant T/C snv 0.19 0.700 1.000 1 2011 2011