Disease: Huntington Disease
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs759834365
BDNF-AS ; BDNF
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs2070600
AGER
0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 82
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 81
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 63
rs104893877
SNCA
0.614 0.360 4 89828149 missense variant C/T snv 59
rs1416580204
MOK
0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 49
rs75932628
LOC105375056 ; TREM2
0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 28
rs1805007
MC1R
0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 25
rs104893878
SNCA ; SNCA-AS1
0.732 0.160 4 89835580 missense variant C/G snv 21
rs2297235
GSTO2
0.752 0.320 10 104274733 5 prime UTR variant A/G snv 0.22 11
rs5030732
UCHL1 ; UCHL1-AS1
0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 10
rs1806201
GRIN2B
0.776 0.200 12 13564574 synonymous variant G/A snv 0.32 0.24 8
rs62643364
PRNP
0.851 0.160 20 4699466 synonymous variant A/G;T snv 4.0E-06; 1.4E-04 7
rs121917767
UCHL1
0.827 0.120 4 41260751 missense variant C/A;G;T snv 4.0E-05; 4.0E-06; 2.0E-05 6
rs1382597320
ATN1
0.882 0.160 12 6934305 missense variant A/G snv 7.0E-06 3
rs1277892620
ACACA
0.925 0.120 17 37242036 synonymous variant A/G snv 4.0E-06 7.0E-06 2