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: rs1042725
rs1042725
HMGA2
7 0.882 0.080 12 65964567 3 prime UTR variant C/T snv 0.48 0.700 1.000 5 2007 2019
dbSNP: rs3791679
rs3791679
EFEMP1 ; LOC112268416
11 0.925 0.120 2 55869757 intron variant A/G snv 0.20 0.700 1.000 7 2008 2019
dbSNP: rs3791675
rs3791675
EFEMP1
4 1.000 0.040 2 55884174 intron variant C/T snv 0.20 0.700 1.000 6 2008 2019
dbSNP: rs724016
rs724016
ZBTB38
5 1.000 0.040 3 141386728 5 prime UTR variant A/G snv 0.52 0.700 1.000 6 2008 2019
dbSNP: rs8756
rs8756
HMGA2
7 0.882 0.200 12 65965972 3 prime UTR variant C/A snv 0.56 0.700 1.000 6 2008 2019
dbSNP: rs11205277
rs11205277 		5 1.000 0.120 1 149920979 upstream gene variant A/C;G;T snv 0.700 1.000 5 2008 2019
dbSNP: rs1776897
rs1776897 		4 6 34227234 regulatory region variant G/T snv 0.80 0.700 1.000 5 2008 2019
dbSNP: rs7466269
rs7466269
FUBP3
3 9 130588697 intron variant A/G snv 0.33 0.700 1.000 5 2008 2017
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 4 2008 2019
dbSNP: rs11107116
rs11107116
SOCS2
3 1.000 0.080 12 93584728 downstream gene variant G/A;T snv 0.700 1.000 4 2008 2019
dbSNP: rs1812175
rs1812175
HHIP ; HHIP-AS1
6 4 144653692 intron variant A/G snv 0.79 0.700 1.000 4 2008 2019
dbSNP: rs6060369
rs6060369
UQCC1
2 20 35319358 intron variant T/C snv 0.49 0.700 1.000 4 2008 2019
dbSNP: rs6763931
rs6763931
ZBTB38
4 0.925 0.080 3 141383991 intron variant G/A snv 0.54 0.700 1.000 4 2008 2019
dbSNP: rs10906982
rs10906982
ADAMTSL3
2 15 83899406 intron variant T/A snv 0.63 0.700 1.000 3 2008 2019
dbSNP: rs10958476
rs10958476
PLAG1
2 8 56183249 intron variant T/C snv 0.16 0.700 1.000 3 2008 2014
dbSNP: rs2282978
rs2282978
CDK6 ; LOC112268009
5 7 92635096 intron variant T/C snv 0.38 0.700 1.000 3 2008 2009
dbSNP: rs4800148
rs4800148
CABLES1
4 18 23144364 intron variant G/A;C snv 0.700 1.000 3 2008 2019
dbSNP: rs4896582
rs4896582
ADGRG6
5 6 142382740 intron variant G/A snv 0.50 0.700 1.000 3 2008 2019
dbSNP: rs6440003
rs6440003
ZBTB38
4 3 141375367 intron variant G/A snv 0.54 0.700 1.000 3 2008 2019
dbSNP: rs6830062
rs6830062
LCORL
2 4 18016107 intron variant T/C snv 0.25 0.700 1.000 3 2008 2019
dbSNP: rs757608
rs757608 		4 17 61419916 regulatory region variant A/G;T snv 0.700 1.000 3 2008 2019
dbSNP: rs10512248
rs10512248
PTCH1
4 0.925 0.120 9 95497421 intron variant T/A;G snv 0.700 1.000 2 2008 2015
dbSNP: rs12198986
rs12198986 		4 6 7719826 regulatory region variant G/A snv 0.37 0.700 1.000 2 2008 2019
dbSNP: rs12735613
rs12735613 		2 1 118341350 intergenic variant G/A snv 0.22 0.700 1.000 2 2008 2019
dbSNP: rs12986413
rs12986413
DOT1L
2 19 2170955 intron variant A/T snv 0.46 0.700 1.000 2 2008 2019