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: rs36117895
rs36117895
1 1.000 0.120 3 11358545 missense variant T/C snv 3.2E-02 3.9E-02 0.020 1.000 2 2010 2013
dbSNP: rs10015979
rs10015979
HTT
1 1.000 0.120 4 3107715 intron variant A/G snv 0.30 0.700 1.000 1 2012 2012
dbSNP: rs10934657
rs10934657
1 1.000 0.120 3 124093989 intron variant T/C snv 0.60 0.010 1.000 1 2012 2012
dbSNP: rs110501
rs110501
HTT
1 1.000 0.120 4 3223751 intron variant T/C snv 0.47 0.700 1.000 1 2012 2012
dbSNP: rs11248108
rs11248108
1 1.000 0.120 4 2479763 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs1138690
rs1138690
1 1.000 0.120 4 3289674 upstream gene variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs1170668763
rs1170668763
1 1.000 0.120 17 42818395 missense variant T/A snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs11731237
rs11731237
HTT
1 1.000 0.120 4 3150086 intron variant C/T snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs1210554604
rs1210554604
HTT
1 1.000 0.120 4 3131662 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs1232027
rs1232027
1 1.000 0.120 5 80619201 intron variant G/A snv 0.32 0.700 1.000 1 2017 2017
dbSNP: rs12641989
rs12641989
1 1.000 0.120 4 3418113 non coding transcript exon variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs12668183
rs12668183
1 1.000 0.120 7 16455781 regulatory region variant T/C snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs13102260
rs13102260
1 1.000 0.120 4 3074678 intron variant G/A snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs1313770
rs1313770
1 1.000 0.120 4 3056082 intron variant A/G snv 0.57 0.010 1.000 1 2005 2005
dbSNP: rs1419046
rs1419046
1 1.000 0.120 4 2984322 intron variant T/A snv 0.39 0.700 1.000 1 2012 2012
dbSNP: rs16844309
rs16844309
1 1.000 0.120 4 3416539 intron variant G/A snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs1730768
rs1730768
1 1.000 0.120 4 3407632 intron variant A/G snv 0.85 0.700 1.000 1 2012 2012
dbSNP: rs2071655
rs2071655
HTT
1 1.000 0.120 4 3116389 intron variant T/A;G snv 0.700 1.000 1 2012 2012
dbSNP: rs2234759
rs2234759
1 1.000 0.120 4 155208405 non coding transcript exon variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs2269499
rs2269499
HTT
1 1.000 0.120 4 3237975 intron variant C/T snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs2285086
rs2285086
HTT
1 1.000 0.120 4 3087532 intron variant A/G snv 0.48 0.700 1.000 1 2012 2012
dbSNP: rs2298969
rs2298969
HTT
1 1.000 0.120 4 3184517 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2471336
rs2471336
1 1.000 0.120 4 2995884 intron variant T/C snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs2471347
rs2471347
HTT
1 1.000 0.120 4 3042708 intron variant G/A snv 0.68 0.700 1.000 1 2012 2012
dbSNP: rs2749782
rs2749782
1 1.000 0.120 4 3338034 intron variant T/C snv 0.70 0.700 1.000 1 2012 2012