Source: BEFREE ×
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: rs104894230
rs104894230
HRAS ; LRRC56
42 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1057519320
rs1057519320
FBN1
4 0.807 0.160 15 48444574 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1057519321
rs1057519321
FBN2
4 0.807 0.160 5 128349391 missense variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs121434409
rs121434409
GLE1 ; LOC101929270
1 0.925 0.120 9 128541124 missense variant T/C snv 3.6E-05 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs121434589
rs121434589
MYH2 ; MYHAS
7 0.851 0.200 17 10535137 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs727503094
rs727503094
HRAS ; LRRC56
41 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 0.010 1.000 1 2017 2017
dbSNP: rs786201003
rs786201003
NALCN
2 0.925 0.080 13 101083752 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs917411291
rs917411291
GZMM
9 0.851 0.360 19 544072 start lost A/C;G snv 0.010 1.000 1 2019 2019