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: rs2241880
rs2241880
ATG16L1 ; SCARNA5
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2010 2010
dbSNP: rs2742976
rs2742976
E2F2
3 0.882 0.240 1 23531510 upstream gene variant T/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs3736265
rs3736265
PPARGC1A
7 0.790 0.360 4 23813084 missense variant G/A;T snv 8.6E-02; 2.8E-05 0.010 1.000 1 2014 2014
dbSNP: rs11248108
rs11248108
RNF4
1 1.000 0.120 4 2479763 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs704352
rs704352
RNF4
1 1.000 0.120 4 2484759 intron variant C/A;T snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs1805015
rs1805015
IL4R
22 0.683 0.520 16 27362859 missense variant T/C snv 0.16 0.22 0.010 1.000 1 2013 2013
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.020 1.000 2 2006 2006
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.020 1.000 2 2006 2006
dbSNP: rs189139
rs189139
SH3BP2
2 0.925 0.160 4 2831000 intron variant C/T snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs762847
rs762847
ADD1
1 1.000 0.120 4 2910336 intron variant A/G snv 0.54 0.700 1.000 1 2012 2012
dbSNP: rs1419046
rs1419046
GRK4
1 1.000 0.120 4 2984322 intron variant T/A snv 0.39 0.700 1.000 1 2012 2012
dbSNP: rs2960308
rs2960308
GRK4
1 1.000 0.120 4 2989313 intron variant G/A snv 0.48 0.700 1.000 1 2012 2012
dbSNP: rs2471336
rs2471336
GRK4
1 1.000 0.120 4 2995884 intron variant T/C snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs2857845
rs2857845
GRK4
1 1.000 0.120 4 3026386 intron variant A/T snv 0.11 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: rs1313770
rs1313770
HTT ; HTT-AS
1 1.000 0.120 4 3056082 intron variant A/G snv 0.57 0.010 1.000 1 2005 2005
dbSNP: rs2798296
rs2798296
HTT ; HTT-AS
1 1.000 0.120 4 3060438 intron variant A/G snv 0.44 0.700 1.000 1 2012 2012
dbSNP: rs13102260
rs13102260
HTT ; HTT-AS
1 1.000 0.120 4 3074678 intron variant G/A snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs71180116
rs71180116
HTT ; HTT-AS
1 1.000 0.120 4 3074877 inframe insertion GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA/-;GCA;GCAGCA;GCAGCAGCA;GCAGCAGCAGCA;GCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA delins 0.14 0.700 0
dbSNP: rs3856973
rs3856973
HTT
1 1.000 0.120 4 3078446 intron variant G/A;C snv 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: rs150393409
rs150393409
FAN1
3 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: rs3512
rs3512
FAN1 ; MTMR10
4 0.925 0.160 15 30942802 3 prime UTR variant G/C snv 0.27 0.020 1.000 2 2016 2020
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: rs2071655
rs2071655
HTT
1 1.000 0.120 4 3116389 intron variant T/A;G snv 0.700 1.000 1 2012 2012