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: rs3197999
rs3197999
APEH ; MST1
16 0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27 0.720 1.000 4 2011 2013
dbSNP: rs13119723
rs13119723
KIAA1109
8 0.807 0.280 4 122297158 intron variant A/G snv 0.10 0.710 1.000 2 2011 2012
dbSNP: rs7426056
rs7426056 		6 0.807 0.120 2 203747335 regulatory region variant A/G snv 0.81 0.710 1.000 2 2013 2017
dbSNP: rs11168249
rs11168249
HDAC7
9 0.807 0.120 12 47814585 intron variant T/C snv 0.50 0.700 1.000 2 2011 2013
dbSNP: rs3748816
rs3748816
MMEL1
7 0.827 0.200 1 2595307 missense variant A/G snv 0.41 0.46 0.700 1.000 2 2012 2013
dbSNP: rs10883371
rs10883371
NKX2-3 ; LINC01475
1 1.000 0.040 10 99532698 upstream gene variant C/A snv 0.54 0.700 1.000 1 2013 2013
dbSNP: rs10905718
rs10905718 		1 1.000 0.040 10 6072893 upstream gene variant A/G snv 0.25 0.700 1.000 1 2011 2011
dbSNP: rs11203203
rs11203203
UBASH3A
9 0.807 0.240 21 42416077 intron variant G/A snv 0.28 0.700 1.000 1 2013 2013
dbSNP: rs11676348
rs11676348 		8 0.790 0.160 2 218145423 regulatory region variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs12369214
rs12369214
RIC8B
6 0.807 0.120 12 106804833 intron variant G/A snv 0.41 0.700 1.000 1 2013 2013
dbSNP: rs12479056
rs12479056
PUS10
1 1.000 0.040 2 60948177 synonymous variant T/C snv 0.56 0.62 0.700 1.000 1 2013 2013
dbSNP: rs13132245
rs13132245 		1 1.000 0.040 4 122128437 intergenic variant A/G snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs13140464
rs13140464 		2 0.925 0.040 4 122578590 regulatory region variant G/T snv 0.10 0.700 1.000 1 2013 2013
dbSNP: rs17683107
rs17683107
GAS7
1 1.000 0.040 17 9921085 intron variant G/A snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs1788097
rs1788097
CD226
2 0.925 0.040 18 69876452 intron variant C/T snv 0.56 0.700 1.000 1 2013 2013
dbSNP: rs2836883
rs2836883 		4 0.882 0.080 21 39094818 intergenic variant G/A snv 0.23 0.700 1.000 1 2013 2013
dbSNP: rs2844559
rs2844559 		1 1.000 0.040 6 31372298 intron variant C/T snv 8.0E-02 0.700 1.000 1 2010 2010
dbSNP: rs3099844
rs3099844
MICB-DT
13 0.732 0.400 6 31481199 non coding transcript exon variant C/A snv 0.11 0.700 1.000 1 2010 2010
dbSNP: rs3134883
rs3134883
IL2RA
1 1.000 0.040 10 6058762 intron variant G/A snv 0.23 0.700 1.000 1 2011 2011
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2013 2013
dbSNP: rs34762726
rs34762726
BSN
1 1.000 0.040 3 49651777 missense variant G/A snv 0.27 0.28 0.700 1.000 1 2013 2013
dbSNP: rs4147359
rs4147359 		2 0.925 0.040 10 6066476 upstream gene variant G/A snv 0.33 0.700 1.000 1 2013 2013
dbSNP: rs415595
rs415595
TNP2 ; RMI2 ; LOC105371082
1 1.000 0.040 16 11269835 intron variant A/G snv 0.46 0.700 1.000 1 2013 2013
dbSNP: rs4391646
rs4391646
LOC112268276
1 1.000 0.040 1 166208147 intron variant T/C snv 0.22 0.700 1.000 1 2011 2011
dbSNP: rs56258221
rs56258221
LOC105377891
2 0.925 0.040 6 90320722 intron variant T/C snv 0.13 0.700 1.000 1 2013 2013