Gene: ATXN2 ×
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: rs1029388
rs1029388
ATXN2
1 12 111489097 intron variant T/C snv 0.38 0.700 1.000 1 2012 2012
dbSNP: rs10774625
rs10774625
ATXN2
13 0.763 0.320 12 111472415 intron variant A/G snv 0.66 0.700 1.000 1 2012 2012
dbSNP: rs10849949
rs10849949
ATXN2
1 12 111455733 3 prime UTR variant A/G snv 0.38 0.700 1.000 1 2012 2012
dbSNP: rs12369009
rs12369009
ATXN2
1 12 111581995 intron variant G/T snv 0.63 0.700 1.000 1 2012 2012
dbSNP: rs2073950
rs2073950
ATXN2
1 12 111456268 intron variant C/T snv 0.21 0.20 0.700 1.000 1 2012 2012
dbSNP: rs2238154
rs2238154
ATXN2 ; SH2B3
4 0.882 0.080 12 111444681 intron variant C/A;G snv 0.700 1.000 1 2012 2012
dbSNP: rs2239195
rs2239195
ATXN2 ; SH2B3
1 12 111443505 3 prime UTR variant G/T snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs2301621
rs2301621
ATXN2
1 12 111457468 non coding transcript exon variant C/T snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs2301622
rs2301622
ATXN2
1 12 111457399 non coding transcript exon variant C/G;T snv 0.34 0.700 1.000 1 2012 2012
dbSNP: rs2339816
rs2339816
ATXN2
1 12 111474384 intron variant T/C snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2012 2012
dbSNP: rs4766578
rs4766578
ATXN2
8 0.851 0.200 12 111466567 intron variant T/A snv 0.66 0.700 1.000 1 2012 2012
dbSNP: rs593226
rs593226
ATXN2
1 12 111556082 intron variant A/G snv 0.43 0.700 1.000 1 2012 2012
dbSNP: rs607316
rs607316
ATXN2
1 12 111531644 intron variant C/T snv 0.31 0.700 1.000 1 2012 2012
dbSNP: rs616513
rs616513
ATXN2
1 12 111565579 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs616559
rs616559
ATXN2
1 12 111565546 intron variant T/C snv 0.31 0.700 1.000 1 2012 2012
dbSNP: rs616668
rs616668
ATXN2
1 12 111536476 intron variant T/A;C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs625093
rs625093
ATXN2
1 12 111550628 intron variant A/G snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs628825
rs628825
ATXN2
1 12 111514046 intron variant C/T snv 0.37 0.700 1.000 1 2012 2012
dbSNP: rs630512
rs630512
ATXN2
1 12 111514363 intron variant C/T snv 0.37 0.700 1.000 1 2012 2012
dbSNP: rs638791
rs638791
ATXN2
1 12 111551432 intron variant A/G snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs648997
rs648997
ATXN2
1 12 111538972 intron variant C/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs6490162
rs6490162
ATXN2
1 12 111503316 intron variant T/C snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs653178
rs653178
ATXN2
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.700 1.000 1 2012 2012
dbSNP: rs657197
rs657197
ATXN2
1 12 111527854 intron variant C/A;T snv 0.700 1.000 1 2012 2012