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: rs899115126
rs899115126
EDNRA
3 0.882 0.080 4 147542603 missense variant G/C snv 0.010 1.000 1 2016 2016
dbSNP: rs7961953
rs7961953
TMTC2
2 0.925 0.040 12 82698057 intron variant G/A snv 0.15 0.010 1.000 1 2017 2017
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: 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: rs7795356
rs7795356
COMETT
1 1.000 0.040 7 116576975 intron variant T/A;C snv 0.010 < 0.001 1 2013 2013
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
dbSNP: rs749476057
rs749476057
OPTN
1 1.000 0.040 10 13122411 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2019 2019
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: rs74315329
rs74315329
MYOC ; MYOCOS
15 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.010 1.000 1 2019 2019
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: rs7081455
rs7081455 		4 0.851 0.040 10 20349956 upstream gene variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs7049105
rs7049105
CDKN2B-AS1
7 0.807 0.120 9 22028802 intron variant A/G snv 0.58 0.010 1.000 1 2012 2012
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: rs690037
rs690037
RFTN1 ; OXNAD1
3 0.882 0.040 3 16354161 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs678350
rs678350
HK2
1 1.000 0.040 2 74835743 intron variant G/A snv 0.77 0.010 1.000 1 2019 2019
dbSNP: rs61854782
rs61854782
ATOH7
2 0.925 0.040 10 68231992 5 prime UTR variant T/G snv 0.14 0.010 1.000 1 2012 2012
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: rs557678153
rs557678153
OPTN
1 1.000 0.040 10 13126017 missense variant T/C snv 4.8E-05 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs547984
rs547984 		3 0.882 0.040 1 237933586 intergenic variant A/C snv 0.60 0.010 1.000 1 2017 2017
dbSNP: rs5370
rs5370
EDN1
37 0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21 0.010 1.000 1 2016 2016
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: rs4673
rs4673
CYBA
32 0.653 0.600 16 88646828 missense variant A/G;T snv 0.70 0.010 1.000 1 2012 2012
dbSNP: rs4236601
rs4236601 		4 0.882 0.040 7 116522675 upstream gene variant G/A snv 0.28 0.010 < 0.001 1 2013 2013
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2009 2009
dbSNP: rs3858145
rs3858145 		3 0.882 0.040 10 68252081 regulatory region variant A/G snv 0.33 0.010 1.000 1 2012 2012