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: rs3791675
rs3791675
EFEMP1
4 1.000 0.040 2 55884174 intron variant C/T snv 0.20 0.700 1.000 4 2008 2010
dbSNP: rs6440003
rs6440003
ZBTB38
4 3 141375367 intron variant G/A snv 0.54 0.700 1.000 4 2008 2011
dbSNP: rs724016
rs724016
ZBTB38
5 1.000 0.040 3 141386728 5 prime UTR variant A/G snv 0.52 0.700 1.000 4 2008 2011
dbSNP: rs1042725
rs1042725
HMGA2
7 0.882 0.080 12 65964567 3 prime UTR variant C/T snv 0.48 0.700 1.000 3 2007 2008
dbSNP: rs10946808
rs10946808
H2AC9P
5 1.000 0.040 6 26233159 non coding transcript exon variant A/G snv 0.26 0.700 1.000 3 2008 2009
dbSNP: rs11144688
rs11144688
PCSK5
2 9 75927370 intron variant G/A snv 9.2E-02 0.700 1.000 3 2010 2013
dbSNP: rs1776897
rs1776897 		4 6 34227234 regulatory region variant G/T snv 0.80 0.700 1.000 3 2008 2010
dbSNP: rs2282978
rs2282978
CDK6 ; LOC112268009
5 7 92635096 intron variant T/C snv 0.38 0.700 1.000 3 2008 2009
dbSNP: rs2284746
rs2284746
MFAP2
6 1 16980180 intron variant C/A;G snv 0.700 1.000 3 2010 2013
dbSNP: rs3791679
rs3791679
EFEMP1 ; LOC112268416
11 0.925 0.120 2 55869757 intron variant A/G snv 0.20 0.700 1.000 3 2008 2013
dbSNP: rs572169
rs572169
GHSR
6 0.882 0.160 3 172447937 synonymous variant C/T snv 0.31 0.24 0.700 1.000 3 2010 2013
dbSNP: rs6763931
rs6763931
ZBTB38
4 0.925 0.080 3 141383991 intron variant G/A snv 0.54 0.700 1.000 3 2008 2011
dbSNP: rs7466269
rs7466269
FUBP3
3 9 130588697 intron variant A/G snv 0.33 0.700 1.000 3 2008 2013
dbSNP: rs8756
rs8756
HMGA2
7 0.882 0.200 12 65965972 3 prime UTR variant C/A snv 0.56 0.700 1.000 3 2008 2010
dbSNP: rs10472828
rs10472828 		2 5 32888712 non coding transcript exon variant C/T snv 0.40 0.700 1.000 2 2009 2009
dbSNP: rs10512248
rs10512248
PTCH1
4 0.925 0.120 9 95497421 intron variant T/A;G snv 0.700 1.000 2 2008 2011
dbSNP: rs10513137
rs10513137
ZBTB38
2 3 141424588 intron variant G/A;C snv 0.700 1.000 2 2009 2010
dbSNP: rs10748128
rs10748128 		2 12 69433878 intergenic variant G/T snv 0.42 0.700 1.000 2 2010 2013
dbSNP: rs10906982
rs10906982
ADAMTSL3
2 15 83899406 intron variant T/A snv 0.63 0.700 1.000 2 2008 2010
dbSNP: rs10958476
rs10958476
PLAG1
2 8 56183249 intron variant T/C snv 0.16 0.700 1.000 2 2008 2010
dbSNP: rs11107116
rs11107116
SOCS2
3 1.000 0.080 12 93584728 downstream gene variant G/A;T snv 0.700 1.000 2 2008 2010
dbSNP: rs11205277
rs11205277 		5 1.000 0.120 1 149920979 upstream gene variant A/C;G;T snv 0.700 1.000 2 2008 2010
dbSNP: rs1150781
rs1150781
HMGA1 ; SMIM29
2 6 34246545 missense variant C/A;G snv 9.0E-06; 0.85 0.700 1.000 2 2011 2011
dbSNP: rs11658329
rs11658329
MAP3K3 ; STRADA ; LOC101927898
2 17 63685671 intron variant G/C snv 0.39 0.700 1.000 2 2011 2012
dbSNP: rs12393627
rs12393627
ARSL
2 X 2967682 intron variant A/G snv 0.11 0.700 1.000 2 2011 2012