Source: BEFREE ×
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: rs28933979
rs28933979
TTR
68 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.020 1.000 2 2006 2017
dbSNP: rs104894345
rs104894345
HSPB8 ; LOC107984440
4 0.827 0.080 12 119187080 missense variant G/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs104894351
rs104894351
HSPB8 ; LOC107984440
6 0.827 0.080 12 119187078 missense variant A/C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs13420827
rs13420827
DNMT3A
4 0.882 0.160 2 25231099 3 prime UTR variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1356872624
rs1356872624
ATXN3
1 1.000 0.080 14 92071011 frameshift variant -/CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ins 1.1E-05 0.010 1.000 1 2004 2004
dbSNP: rs141672872
rs141672872
ATXN3
2 1.000 0.080 14 92083151 missense variant C/T snv 6.8E-05 1.3E-04 0.010 1.000 1 2010 2010
dbSNP: rs56268847
rs56268847
ATXN3
1 1.000 0.080 14 92071824 intron variant T/C snv 1.8E-03 0.010 1.000 1 2018 2018
dbSNP: rs7354779
rs7354779
DNMT3L ; DNMT3L-AS1
6 0.827 0.200 21 44250887 missense variant T/C snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs762622537
rs762622537
ATXN3
2 1.000 0.080 14 92081048 missense variant G/C snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs766001707
rs766001707
ATXN3
6 0.851 0.200 14 92096772 missense variant C/T snv 0.010 1.000 1 2006 2006