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: rs199746824
rs199746824
MYOC
6 0.807 0.040 1 171652139 missense variant C/G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2001 2001
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 2001 2001
dbSNP: rs2234927
rs2234927
MYOC ; MYOCOS
4 0.851 0.040 1 171638703 missense variant G/A;C snv 4.0E-06; 7.6E-04 0.010 1.000 1 2001 2001
dbSNP: rs28939688
rs28939688
OPTN
7 0.807 0.040 10 13109270 missense variant G/A snv 0.070 1.000 7 2003 2018
dbSNP: rs11258194
rs11258194
OPTN
9 0.776 0.160 10 13110400 missense variant T/A snv 4.4E-02 6.0E-02 0.060 1.000 6 2003 2007
dbSNP: rs1801253
rs1801253
ADRB1
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.010 1.000 1 2006 2006
dbSNP: rs11241095
rs11241095
WDR36
3 0.925 0.040 5 111103810 missense variant A/C;G snv 0.33 0.010 1.000 1 2007 2007
dbSNP: rs2149356
rs2149356
TLR4
14 0.742 0.360 9 117711921 intron variant T/G snv 0.54 0.020 1.000 2 2008 2019
dbSNP: rs10759930
rs10759930 		1 1.000 0.040 9 117699343 upstream gene variant C/T snv 0.30 0.010 1.000 1 2008 2008
dbSNP: rs1927914
rs1927914
TLR4
14 0.732 0.520 9 117702447 upstream gene variant G/A snv 0.52 0.010 1.000 1 2008 2008
dbSNP: rs2165241
rs2165241
LOXL1 ; LOXL1-AS1
15 0.716 0.360 15 73929861 intron variant T/C snv 0.60 0.010 1.000 1 2008 2008
dbSNP: rs3825942
rs3825942
LOXL1 ; LOXL1-AS1
15 0.716 0.320 15 73927241 missense variant G/A;C;T snv 0.18; 4.5E-06 0.010 1.000 1 2008 2008
dbSNP: rs7037117
rs7037117
TLR4
3 0.882 0.040 9 117721385 3 prime UTR variant A/G snv 0.40 0.010 1.000 1 2008 2008
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2009 2016
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2009 2009
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 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: 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: rs735860
rs735860
GCM1
3 0.882 0.040 6 53258320 regulatory region variant T/C snv 0.66 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 0.010 1.000 1 2011 2011
dbSNP: rs747058633
rs747058633
HSP90AA1
2 0.925 0.040 14 102083827 missense variant T/C snv 4.0E-06 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs751417985
rs751417985
STIP1
2 0.925 0.040 11 64203143 missense variant A/G snv 2.4E-05 3.5E-05 0.010 1.000 1 2011 2011