Source: CURATED ×
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: 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: rs10937921
rs10937921
2 1.000 0.120 4 3274764 downstream gene variant C/T snv 0.40 0.700 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: 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: 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: rs1419046
rs1419046
1 1.000 0.120 4 2984322 intron variant T/A snv 0.39 0.700 1.000 1 2012 2012
dbSNP: rs150393409
rs150393409
1 0.882 0.200 15 30910758 missense variant G/A;C snv 6.6E-03; 6.0E-05 0.700 1.000 1 2018 2018
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: rs189139
rs189139
2 0.925 0.160 4 2831000 intron variant C/T snv 0.26 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: 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
dbSNP: rs2798224
rs2798224
2 1.000 0.120 4 3265941 intron variant G/A snv 0.45 0.700 1.000 1 2012 2012
dbSNP: rs2798296
rs2798296
1 1.000 0.120 4 3060438 intron variant A/G snv 0.44 0.700 1.000 1 2012 2012
dbSNP: rs2857845
rs2857845
1 1.000 0.120 4 3026386 intron variant A/T snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs2857861
rs2857861
1 1.000 0.120 4 3322040 intron variant C/T snv 0.53 0.700 1.000 1 2012 2012