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: rs1131692318
rs1131692318
2 0.925 0.080 11 31790710 stop gained C/A;G snv 0.700 0
dbSNP: rs121907912
rs121907912
1 1.000 0.080 11 31800808 stop gained G/A snv 0.700 0
dbSNP: rs121907913
rs121907913
5 0.827 0.080 11 31802769 missense variant G/C snv 0.700 0
dbSNP: rs121907922
rs121907922
12 0.742 0.320 11 31789935 stop gained T/A snv 0.700 0
dbSNP: rs121907929
rs121907929
1 1.000 0.080 11 31793797 stop gained C/T snv 0.700 0
dbSNP: rs1565200471
rs1565200471
1 1.000 0.080 11 31793719 frameshift variant -/CT delins 0.700 0
dbSNP: rs200015827
rs200015827
1 1.000 0.080 11 31790769 missense variant G/C;T snv 4.0E-06; 2.6E-04 0.700 0
dbSNP: rs397514640
rs397514640
4 0.882 0.160 11 31802733 missense variant G/A snv 0.700 0
dbSNP: rs780356070
rs780356070
1 1.000 0.080 11 31789938 missense variant T/C snv 4.5E-06 7.7E-06 0.700 0
dbSNP: rs794726661
rs794726661
1 1.000 0.080 11 31790862 splice acceptor variant T/C snv 0.700 0
dbSNP: rs878852979
rs878852979
2 0.925 0.080 11 31810826 splice donor variant A/T snv 0.700 0
dbSNP: rs121907917
rs121907917
6 0.807 0.240 11 31794079 stop gained G/A snv 0.720 1.000 2 2009 2009
dbSNP: rs1398849685
rs1398849685
RAX
1 1.000 0.080 18 59269327 missense variant G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1131692297
rs1131692297
3 0.882 0.080 11 31801653 stop gained G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs121907914
rs121907914
3 0.882 0.080 11 31801611 stop gained G/A snv 0.710 1.000 1 2012 2012
dbSNP: rs151021417
rs151021417
2 0.925 0.080 1 63323575 missense variant A/C snv 7.2E-05 1.2E-04 0.010 1.000 1 2012 2012
dbSNP: rs184767331
rs184767331
2 0.925 0.080 1 63323105 missense variant C/T snv 4.5E-04 4.4E-04 0.010 1.000 1 2012 2012
dbSNP: rs202186939
rs202186939
2 0.925 0.080 1 63323417 missense variant C/T snv 1.1E-03 9.3E-04 0.010 1.000 1 2012 2012
dbSNP: rs121907919
rs121907919
2 0.925 0.080 11 31800837 missense variant A/T snv 0.700 1.000 17 1993 2014
dbSNP: rs121907927
rs121907927
1 1.000 0.080 11 31794072 missense variant C/G snv 4.0E-06 0.800 1.000 17 1993 2014
dbSNP: rs121907928
rs121907928
2 0.925 0.080 11 31801561 missense variant G/A;C;T snv 0.800 1.000 17 1993 2014
dbSNP: rs373661718
rs373661718
1 1.000 0.080 11 31790836 missense variant A/C snv 0.700 1.000 17 1993 2014
dbSNP: rs749244084
rs749244084
1 1.000 0.080 11 31794689 missense variant C/T snv 8.0E-06 0.700 1.000 17 1993 2014
dbSNP: rs757259413
rs757259413
2 0.925 0.080 11 31794690 missense variant G/A snv 4.0E-06 0.700 1.000 17 1993 2014
dbSNP: rs121907916
rs121907916
3 0.882 0.080 11 31794705 stop gained G/A snv 0.710 1.000 1 2016 2016