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: rs342293
rs342293
CTB-30L5.1
7 0.882 0.040 7 106731773 intron variant C/G snv 0.42 0.700 1.000 2 2012 2019
dbSNP: rs200748895
rs200748895
TNFSF13B
2 13 108308033 3 prime UTR variant GCTG/- del 2.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs192022
rs192022
C11orf65
5 11 108378047 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs4388979
rs4388979
USP30
1 12 109037207 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs6925716
rs6925716
CCDC162P
1 6 109276438 intron variant T/C snv 0.61 0.700 1.000 1 2016 2016
dbSNP: rs11618989
rs11618989 		1 13 109836805 regulatory region variant C/T snv 7.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs11841319
rs11841319 		1 13 109840279 regulatory region variant C/T snv 7.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs377602035
rs377602035
EGF
1 4 109937360 intron variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs11569142
rs11569142
EGF
1 4 110010783 intron variant G/T snv 1.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs17127170
rs17127170
MXI1
1 10 110232464 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs2235989
rs2235989
DDO
1 6 110393381 intron variant A/T snv 0.45 0.47 0.700 1.000 1 2016 2016
dbSNP: rs4766566
rs4766566
CUX2
6 0.851 0.200 12 111269073 intron variant C/T snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs3809272
rs3809272
PHETA1
1 12 111362454 3 prime UTR variant G/A snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs4377346
rs4377346
MIR4435-2HG
1 2 111428267 intron variant T/C snv 0.20 0.700 1.000 1 2016 2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.800 1.000 3 2011 2016
dbSNP: rs148636776
rs148636776
ATXN2 ; SH2B3
18 0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04 0.700 1.000 1 2016 2016
dbSNP: rs739496
rs739496
ATXN2 ; SH2B3
10 0.790 0.160 12 111449855 3 prime UTR variant A/G snv 0.27 0.700 1.000 2 2010 2014
dbSNP: rs11348701
rs11348701
ATXN2
1 12 111452430 3 prime UTR variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT delins 0.31 0.700 1.000 1 2016 2016
dbSNP: rs619010
rs619010
ATXN2
1 12 111537019 intron variant A/G snv 0.37 0.700 1.000 1 2018 2018
dbSNP: rs749237684
rs749237684
BRAP
1 12 111650643 intron variant T/A snv 8.2E-04 0.700 1.000 1 2016 2016
dbSNP: rs59739601
rs59739601
NREP ; STARD4-AS1
1 5 111725320 intron variant A/G snv 0.13 0.700 1.000 1 2016 2016
dbSNP: rs56116444
rs56116444
NREP ; STARD4-AS1
1 5 111726150 intron variant T/G snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs6490294
rs6490294
ACAD10
2 12 111752634 intron variant C/A snv 0.35 0.700 1.000 2 2012 2019
dbSNP: rs530203431
rs530203431
ALDH2
1 12 111810957 3 prime UTR variant A/G snv 9.1E-04 0.700 1.000 1 2016 2016
dbSNP: rs141043717
rs141043717
TMEM116
1 12 111933656 intron variant TT/-;T;TTT delins 0.19 0.700 1.000 1 2016 2016