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: rs10483727
rs10483727 		4 0.851 0.040 14 60606157 upstream gene variant T/C snv 0.45 0.010 1.000 1 2012 2012
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: rs3858145
rs3858145 		3 0.882 0.040 10 68252081 regulatory region variant A/G snv 0.33 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: rs547984
rs547984 		3 0.882 0.040 1 237933586 intergenic variant A/C snv 0.60 0.010 1.000 1 2017 2017
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: 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: 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: rs1052990
rs1052990
CAV2
3 0.882 0.040 7 116508316 3 prime UTR variant T/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs10120688
rs10120688
CDKN2B-AS1
7 0.807 0.080 9 22056500 intron variant G/A snv 0.50 0.010 1.000 1 2012 2012
dbSNP: rs1333037
rs1333037
CDKN2B-AS1
3 0.925 0.040 9 22040766 intron variant C/T snv 0.71 0.700 1.000 1 2016 2016
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: rs1063192
rs1063192
CDKN2B ; CDKN2B-AS1
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.020 1.000 2 2012 2018
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: 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: rs1926320
rs1926320
DCLK1
2 0.925 0.040 13 36078480 intron variant T/C snv 0.27 0.010 < 0.001 1 2012 2012
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: rs899115126
rs899115126
EDNRA
3 0.882 0.080 4 147542603 missense variant G/C snv 0.010 1.000 1 2016 2016
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: 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: 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: rs1900004
rs1900004
LINC02640
5 0.827 0.040 10 68241124 intron variant C/T snv 0.39 0.010 1.000 1 2012 2012
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