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: rs4148323
rs4148323
1 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.800 1.000 2 2010 2013
dbSNP: rs11891311
rs11891311
1 2 233730664 intron variant G/A snv 0.42 0.800 1.000 1 2009 2013
dbSNP: rs28898617
rs28898617
1 1.000 0.040 2 233729143 missense variant A/G snv 3.5E-03 1.1E-03 0.700 1.000 1 2018 2018
dbSNP: rs28946889
rs28946889
1 2 233762816 intron variant G/T snv 0.20 0.800 1.000 1 2009 2018
dbSNP: rs75520741
rs75520741
1 2 233732958 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs7564935
rs7564935
1 2 233736540 intron variant G/T snv 0.37 0.800 1.000 1 2009 2019
dbSNP: rs8330
rs8330
1 1.000 0.040 2 233772999 3 prime UTR variant G/C snv 0.72 0.800 1.000 1 2009 2018
dbSNP: rs6742078
rs6742078
2 0.807 0.240 2 233763993 intron variant G/T snv 0.36 0.800 1.000 4 2009 2015
dbSNP: rs10178992
rs10178992
2 2 233749231 intron variant T/A snv 0.37 0.800 1.000 1 2009 2015
dbSNP: rs10179091
rs10179091
2 2 233749337 intron variant T/C snv 0.49 0.800 1.000 1 2009 2015
dbSNP: rs10929301
rs10929301
2 2 233755003 splice region variant C/G;T snv 0.48 0.800 1.000 1 2009 2015
dbSNP: rs10929302
rs10929302
2 2 233757136 intron variant G/A snv 0.30 0.800 1.000 1 2012 2015
dbSNP: rs11673726
rs11673726
2 2 233755414 non coding transcript exon variant G/A;T snv 0.800 1.000 1 2009 2015
dbSNP: rs11695484
rs11695484
2 2 233745803 intron variant A/G snv 0.30 0.800 1.000 1 2012 2015
dbSNP: rs11888459
rs11888459
2 2 233747994 non coding transcript exon variant T/C snv 0.37 0.800 1.000 1 2009 2015
dbSNP: rs17862875
rs17862875
2 2 233740656 intron variant G/A snv 0.30 0.800 1.000 1 2012 2015
dbSNP: rs17864701
rs17864701
2 2 233744071 intron variant C/T snv 0.30 0.700 1.000 1 2015 2015
dbSNP: rs2885296
rs2885296
2 2 233750415 intron variant A/C snv 0.30 0.700 1.000 1 2015 2015
dbSNP: rs34352510
rs34352510
2 2 233741916 non coding transcript exon variant T/C snv 0.33 0.700 1.000 1 2015 2015
dbSNP: rs35754645
rs35754645
2 2 233755941 non coding transcript exon variant CTCT/-;CT delins 0.37 0.700 1.000 1 2019 2019
dbSNP: rs3771341
rs3771341
2 2 233764593 intron variant G/A;T snv 0.33 0.700 1.000 1 2015 2015
dbSNP: rs4148324
rs4148324
2 2 233764076 intron variant T/A;G snv 0.36 0.800 1.000 1 2012 2015
dbSNP: rs6431630
rs6431630
2 2 233768740 intron variant G/A snv 0.18 0.800 1.000 1 2009 2018
dbSNP: rs6714634
rs6714634
2 2 233756119 non coding transcript exon variant T/C snv 0.30 0.800 1.000 1 2012 2015
dbSNP: rs6747843
rs6747843
2 2 233755708 non coding transcript exon variant G/A snv 0.30 0.700 1.000 1 2015 2015