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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2005 2005
dbSNP: rs2234759
rs2234759
NPY2R ; LOC107986321
1 1.000 0.120 4 155208405 non coding transcript exon variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs82333
rs82333
HTT
1 1.000 0.120 4 3223662 intron variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2014 2014
dbSNP: rs363092
rs363092
HTT
2 1.000 0.120 4 3194302 intron variant A/C;T snv 0.51 0.700 1.000 1 2012 2012
dbSNP: rs7652589
rs7652589 		13 0.732 0.400 3 122170241 downstream gene variant A/G snv 0.60 0.020 1.000 2 2016 2019
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: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs10881578
rs10881578
RXRA
2 0.925 0.240 9 134340689 intron variant A/G snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1277892620
rs1277892620
ACACA
2 0.925 0.120 17 37242036 synonymous variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
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: rs1382597320
rs1382597320
ATN1
3 0.882 0.160 12 6934305 missense variant A/G snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1730768
rs1730768
RGS12
1 1.000 0.120 4 3407632 intron variant A/G snv 0.85 0.700 1.000 1 2012 2012
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2013 2013
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: 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: rs2297235
rs2297235
GSTO2
11 0.752 0.320 10 104274733 5 prime UTR variant A/G snv 0.22 0.010 1.000 1 2004 2004
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: rs3129319
rs3129319
MSANTD1
1 1.000 0.120 4 3263654 intron variant A/G snv 0.37 0.700 1.000 1 2012 2012
dbSNP: rs360719
rs360719
IL18 ; TEX12 ; LOC107987164
7 0.790 0.480 11 112165426 non coding transcript exon variant A/G snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs3742330
rs3742330
DICER1
24 0.662 0.640 14 95087025 3 prime UTR variant A/G snv 8.7E-02 0.010 1.000 1 2016 2016
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 1.000 1 2014 2014
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: rs10719
rs10719
DROSHA
24 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 0.010 1.000 1 2016 2016