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: rs1992314
rs1992314
LOXL1
2 0.925 0.040 15 73931426 intron variant C/G snv 0.29 0.700 1.000 1 2007 2007
dbSNP: rs2028386
rs2028386
LOXL1
2 1.000 0.040 15 73934367 intron variant C/A;G snv 0.700 1.000 1 2007 2007
dbSNP: rs2304719
rs2304719
LOXL1
1 1.000 0.040 15 73943159 intron variant C/T snv 0.30 0.700 1.000 1 2007 2007
dbSNP: rs4243042
rs4243042
LOXL1
1 1.000 0.040 15 73949283 intron variant A/T snv 0.37 0.700 1.000 1 2007 2007
dbSNP: rs4337252
rs4337252
LOXL1
4 1.000 0.040 15 73934424 intron variant G/C snv 0.52 0.700 1.000 1 2007 2007
dbSNP: rs4886782
rs4886782
LOXL1
5 1.000 0.040 15 73936469 intron variant G/A snv 0.27 0.700 1.000 1 2007 2007
dbSNP: rs750460
rs750460
LOXL1
3 1.000 0.040 15 73949165 intron variant G/A;T snv 0.700 1.000 1 2007 2007
dbSNP: rs75654767
rs75654767
OPTN
4 0.851 0.040 10 13136766 missense variant G/A snv 3.1E-03 1.0E-03 0.010 < 0.001 1 2007 2007
dbSNP: rs893817
rs893817
LOXL1
1 1.000 0.040 15 73936724 intron variant G/A snv 0.67 0.700 1.000 1 2007 2007
dbSNP: rs566289099
rs566289099
MYOC ; MYOCOS
6 0.807 0.080 1 171636310 missense variant G/A snv 2.0E-05 3.5E-05 0.060 1.000 6 2003 2008
dbSNP: rs2234926
rs2234926
MYOC
3 0.882 0.040 1 171652385 missense variant C/T snv 0.15 0.11 0.010 1.000 1 2008 2008
dbSNP: rs74315332
rs74315332
MYOC ; MYOCOS
3 0.882 0.040 1 171636000 missense variant G/T snv 0.010 1.000 1 2008 2008
dbSNP: rs8006686
rs8006686
MTHFD1
2 0.925 0.040 14 64401953 intron variant T/C snv 0.22 0.010 1.000 1 2008 2008
dbSNP: rs74315330
rs74315330
MYOC ; MYOCOS
9 0.776 0.080 1 171636331 missense variant G/A snv 0.030 1.000 3 1998 2009
dbSNP: rs200208925
rs200208925
MYOC
2 0.925 0.040 1 171652454 missense variant A/G snv 6.4E-05 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs59758982
rs59758982
TP53
2 0.925 0.040 17 7676326 intron variant TCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCC/-;TCCAGGTCCCCAGCCC;TCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCC delins 0.82 0.010 1.000 1 2009 2009
dbSNP: rs7854658
rs7854658
LMX1B
3 0.882 0.040 9 126652659 intron variant G/A snv 0.26 0.010 1.000 1 2009 2009
dbSNP: rs7859156
rs7859156
LMX1B
4 0.851 0.040 9 126637749 intron variant T/C snv 0.74 0.010 1.000 1 2009 2009
dbSNP: rs1256031
rs1256031
ESR2
9 0.790 0.200 14 64279461 intron variant G/A;T snv 0.57 0.010 1.000 1 2010 2010
dbSNP: rs2567206
rs2567206
CYP1B1 ; CYP1B1-AS1
7 0.827 0.200 2 38076389 non coding transcript exon variant G/A snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs3213787
rs3213787
SRBD1
2 0.925 0.040 2 45419685 intron variant A/G snv 4.3E-02 0.800 1.000 1 2010 2010
dbSNP: rs4986938
rs4986938
ESR2
35 0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33 0.010 1.000 1 2010 2010
dbSNP: rs12994401
rs12994401
LOC730100
2 0.925 0.040 2 51845108 intron variant C/T snv 0.18 0.010 1.000 1 2011 2011
dbSNP: rs140967767
rs140967767
MYOC ; MYOCOS
2 0.925 0.040 1 171636106 missense variant G/A snv 1.9E-04 3.4E-04 0.010 1.000 1 2011 2011
dbSNP: rs1412829
rs1412829
CDKN2B-AS1
14 0.742 0.400 9 22043927 intron variant A/G snv 0.28 0.700 1.000 1 2011 2011