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: rs10519177
rs10519177
FBN1
2 0.925 0.040 15 48464998 intron variant A/G snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs2118181
rs2118181
FBN1
6 0.851 0.040 15 48623687 intron variant T/C snv 0.23 0.010 1.000 1 2014 2014