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: rs193922219
rs193922219
FBN1
9 0.763 0.280 15 48446701 splice region variant C/A;T snv 0.700 0
dbSNP: rs113710653
rs113710653
SPATC1L
2 0.925 0.080 21 46161921 missense variant C/T snv 6.5E-02 6.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs143881017
rs143881017
NDRG2 ; TPPP2 ; RNASE13
1 1.000 0.040 14 21033870 missense variant C/A;T snv 1.6E-05; 7.4E-04 0.010 1.000 1 2017 2017
dbSNP: rs1465567
rs1465567
EGFLAM
3 0.882 0.040 5 38370435 missense variant T/C snv 0.20 0.25 0.010 1.000 1 2017 2017
dbSNP: rs1553303352
rs1553303352
TGFB2
3 0.882 0.120 1 218437368 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs777763524
rs777763524
FN1
1 1.000 0.040 2 215431961 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017