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: rs9268492
rs9268492
BTNL2 ; TSBP1-AS1
3 0.882 0.200 6 32407503 non coding transcript exon variant C/G snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs9268494
rs9268494
BTNL2 ; TSBP1-AS1
3 0.882 0.200 6 32407575 non coding transcript exon variant A/C;T snv 0.32 0.010 1.000 1 2015 2015
dbSNP: rs150793926
rs150793926
CACNB4
1 1.000 0.040 2 151924550 intron variant TA/-;TATA;TATATA delins 0.700 1.000 1 2018 2018
dbSNP: rs143268013
rs143268013
CAVIN4
1 1.000 0.040 9 100578527 missense variant C/G snv 1.2E-04 3.4E-04 0.010 1.000 1 2011 2011
dbSNP: rs751703046
rs751703046
CAVIN4
1 1.000 0.040 9 100586276 missense variant G/C snv 9.9E-05 4.9E-05 0.010 1.000 1 2011 2011
dbSNP: rs536907995
rs536907995
CHEK2
5 0.882 0.120 22 28734664 stop gained G/A snv 1.4E-04 2.8E-05 0.010 1.000 1 2016 2016
dbSNP: rs6660685
rs6660685
CLCNKA ; HSPB7
1 1.000 0.040 1 16020493 intron variant A/G snv 0.70 0.010 1.000 1 2013 2013
dbSNP: rs7523558
rs7523558
CLCNKA ; HSPB7
1 1.000 0.040 1 16020237 splice region variant G/A snv 6.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs141638421
rs141638421
CRYAB
4 0.882 0.080 11 111908822 missense variant C/T snv 7.2E-05 4.9E-05 0.010 1.000 1 2006 2006
dbSNP: rs137852764
rs137852764
CSRP3
1 1.000 0.040 11 19188211 missense variant T/C snv 2.0E-05 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs535039125
rs535039125
CYP2B6
5 0.851 0.040 19 41004380 missense variant C/T snv 1.1E-04 1.3E-04 0.010 1.000 1 2012 2012
dbSNP: rs121913002
rs121913002
DES
7 0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04 0.010 1.000 1 1999 1999
dbSNP: rs1368507241
rs1368507241
DES
2 1.000 0.040 2 219420613 missense variant C/T snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs397516695
rs397516695
DES
4 0.882 0.040 2 219418869 missense variant T/A;C snv 5.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs61726467
rs61726467
DES
3 0.882 0.160 2 219421553 stop gained G/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs767743962
rs767743962
DES
1 1.000 0.040 2 219420290 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1462311598
rs1462311598
DMD
1 1.000 0.040 X 32390180 missense variant T/C snv 5.5E-06 0.010 1.000 1 2004 2004
dbSNP: rs777064945
rs777064945
DNAH8
1 1.000 0.040 6 38722928 missense variant A/C;G snv 4.1E-06; 8.3E-06 0.010 1.000 1 2010 2010
dbSNP: rs149399492
rs149399492
EDN1
1 1.000 0.040 6 12292395 missense variant C/A;G;T snv 5.6E-05; 2.0E-05; 3.1E-04 0.010 1.000 1 2014 2014
dbSNP: rs150035515
rs150035515
EDN1
1 1.000 0.040 6 12292366 synonymous variant G/A;T snv 7.0E-04; 5.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs867770797
rs867770797
EDNRA
8 0.851 0.200 4 147519875 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs2227983
rs2227983
EGFR
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 0.010 1.000 1 2009 2009
dbSNP: rs777846521
rs777846521
FHL2
1 1.000 0.040 2 105386375 missense variant C/G;T snv 8.0E-06; 3.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs753641918
rs753641918
FHOD3
1 1.000 0.040 18 36755156 missense variant T/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2013 2013