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: rs10006397
rs10006397
3 0.925 0.120 4 10034516 non coding transcript exon variant C/A snv 0.78 0.700 1.000 1 2009 2009
dbSNP: rs28362590
rs28362590
2 5 177304451 intron variant G/C;T snv 0.78 0.700 1.000 1 2019 2019
dbSNP: rs199739
rs199739
5 0.925 0.120 6 25960281 upstream gene variant A/C;G snv 0.78 0.700 1.000 1 2009 2009
dbSNP: rs4608811
rs4608811
1 4 10048051 intron variant A/C snv 0.77 0.700 1.000 1 2009 2009
dbSNP: rs733175
rs733175
5 0.851 0.240 4 10048517 intron variant C/T snv 0.77 0.700 1.000 1 2009 2009
dbSNP: rs199753
rs199753
5 0.925 0.120 6 26001660 non coding transcript exon variant G/A snv 0.77 0.700 1.000 1 2009 2009
dbSNP: rs199750
rs199750
5 0.882 0.160 6 26016234 upstream gene variant C/T snv 0.77 0.700 1.000 1 2009 2009
dbSNP: rs199751
rs199751
5 0.925 0.120 6 26015355 upstream gene variant T/C snv 0.77 0.700 1.000 1 2009 2009
dbSNP: rs199752
rs199752
5 0.925 0.120 6 26012647 upstream gene variant C/T snv 0.77 0.700 1.000 1 2009 2009
dbSNP: rs7232775
rs7232775
2 18 45622439 intron variant C/T snv 0.76 0.700 1.000 1 2011 2011
dbSNP: rs11066390
rs11066390
1 12 112725961 intron variant A/G snv 0.76 0.700 1.000 1 2019 2019
dbSNP: rs4620914
rs4620914
1 15 37928190 intron variant T/A snv 0.76 0.700 1.000 1 2015 2015
dbSNP: rs2230655
rs2230655
5 0.882 0.160 6 26033278 synonymous variant G/A snv 0.71 0.76 0.700 1.000 1 2009 2009
dbSNP: rs2213284
rs2213284
4 0.925 0.120 6 26031640 3 prime UTR variant G/A snv 0.70 0.76 0.700 1.000 1 2009 2009
dbSNP: rs9467664
rs9467664
5 0.925 0.120 6 26021585 upstream gene variant A/T snv 0.76 0.700 1.000 1 2009 2009
dbSNP: rs6449144
rs6449144
3 0.925 0.120 4 9943026 intron variant T/G snv 0.75 0.700 1.000 1 2009 2009
dbSNP: rs1035942
rs1035942
3 0.925 0.120 19 7199792 intron variant A/G snv 0.75 0.700 1.000 1 2013 2013
dbSNP: rs2868941
rs2868941
3 0.925 0.120 4 10508075 intron variant T/C snv 0.73 0.75 0.700 1.000 1 2009 2009
dbSNP: rs10939614
rs10939614
3 0.925 0.120 4 9924989 intron variant T/C snv 0.75 0.700 1.000 1 2009 2009
dbSNP: rs4401650
rs4401650
5 0.925 0.120 6 26034980 upstream gene variant G/A snv 0.75 0.700 1.000 1 2009 2009
dbSNP: rs4077450
rs4077450
1 16 79897698 TF binding site variant G/T snv 0.74 0.700 1.000 1 2019 2019
dbSNP: rs6834555
rs6834555
4 0.882 0.200 4 10060702 regulatory region variant G/A snv 0.74 0.700 1.000 1 2009 2009
dbSNP: rs714873
rs714873
4 0.882 0.200 4 10057994 upstream gene variant G/A snv 0.74 0.700 1.000 1 2009 2009
dbSNP: rs1783811
rs1783811
3 0.925 0.120 11 64565824 non coding transcript exon variant A/G snv 0.73 0.700 1.000 1 2009 2009
dbSNP: rs10425
rs10425
4 0.925 0.120 6 26056321 synonymous variant A/G snv 0.68 0.73 0.700 1.000 1 2009 2009