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: rs1866813
rs1866813 		1 1.000 0.120 3 137083096 intergenic variant A/C snv 0.14 0.020 1.000 2 2009 2013
dbSNP: rs10019835
rs10019835
GUCY1A1
1 1.000 0.120 4 155712034 intron variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs10047560
rs10047560
PDE3A
1 1.000 0.120 12 20452282 intron variant A/G snv 0.86 0.700 1.000 1 2011 2011
dbSNP: rs1034589
rs1034589
RNF185
1 1.000 0.120 22 31183247 intron variant C/T snv 0.79 0.700 1.000 1 2011 2011
dbSNP: rs10868025
rs10868025
FRMD3
1 1.000 0.120 9 83549261 intergenic variant A/G snv 0.30 0.700 1.000 1 2009 2009
dbSNP: rs10951509
rs10951509
ELMO1
1 1.000 0.120 7 37173878 intron variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs10952362
rs10952362 		1 1.000 0.120 7 152565713 regulatory region variant T/C snv 0.25 0.700 1.000 1 2015 2015
dbSNP: rs11107616
rs11107616
NAV3
1 1.000 0.120 12 77971000 intron variant T/G snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs11130362
rs11130362
TKT
1 1.000 0.120 3 53231750 non coding transcript exon variant C/T snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs1129456
rs1129456
GREM1
1 1.000 0.120 15 32734466 3 prime UTR variant A/T snv 0.19 0.010 1.000 1 2010 2010
dbSNP: rs11538209
rs11538209
ALB
2 1.000 0.120 4 73404356 missense variant T/C snv 0.010 < 0.001 1 2001 2001
dbSNP: rs1157043147
rs1157043147
ACE
1 1.000 0.120 17 63477150 missense variant T/C snv 2.8E-05 0.010 1.000 1 2003 2003
dbSNP: rs11645214
rs11645214
SF3B3
1 1.000 0.120 16 70575084 3 prime UTR variant A/G snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs11886047
rs11886047 		1 1.000 0.120 2 43623451 upstream gene variant T/A;C snv 0.20 0.010 1.000 1 2008 2008
dbSNP: rs1249910
rs1249910 		1 1.000 0.120 3 112672327 intergenic variant A/G snv 0.58 0.700 1.000 1 2015 2015
dbSNP: rs12523822
rs12523822 		1 1.000 0.120 6 154633286 intergenic variant C/G;T snv 0.710 1.000 1 2015 2015
dbSNP: rs1252906
rs1252906
DAAM1
1 1.000 0.120 14 59192073 intron variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs1253192
rs1253192 		1 1.000 0.120 14 59376688 intergenic variant A/G snv 0.92 0.010 1.000 1 2013 2013
dbSNP: rs12708815
rs12708815
XYLT1 ; LOC102723692
1 1.000 0.120 16 17134511 synonymous variant G/A;C snv 0.56 0.010 1.000 1 2006 2006
dbSNP: rs1298908
rs1298908
LOC100130698
1 1.000 0.120 10 80253378 non coding transcript exon variant C/T snv 0.48 0.53 0.700 1.000 1 2015 2015
dbSNP: rs13254600
rs13254600
TBC1D31
1 1.000 0.120 8 123077286 intron variant C/A;G snv 0.28; 4.8E-06 0.700 1.000 1 2015 2015
dbSNP: rs1341633213
rs1341633213
ACE
1 1.000 0.120 17 63496422 stop gained C/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1345365
rs1345365
ELMO1
1 1.000 0.120 7 37161008 intron variant G/A snv 0.61 0.010 < 0.001 1 2019 2019
dbSNP: rs140407862
rs140407862
WFS1
1 1.000 0.120 4 6301015 missense variant A/G snv 4.4E-05 1.0E-04 0.010 1.000 1 2018 2018
dbSNP: rs1476046
rs1476046
EDN1
1 1.000 0.120 6 12292988 intron variant G/A snv 0.22 0.010 1.000 1 2009 2009