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: rs55710213
rs55710213
SCD
1 10 100359243 intron variant C/T snv 0.32 0.700 1.000 1 2016 2016
dbSNP: rs1754541
rs1754541
2 1 101160327 intergenic variant A/G snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs7168592
rs7168592
4 15 101183294 intron variant C/T snv 9.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs111759324
rs111759324
2 1 101186966 upstream gene variant C/T snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs114743735
rs114743735
2 3 10186296 intron variant C/G snv 4.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs10409243
rs10409243
6 19 10222312 3 prime UTR variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs5833013
rs5833013
2 2 102352407 intron variant -/TA delins 0.700 1.000 1 2016 2016
dbSNP: rs34020101
rs34020101
2 2 102435015 non coding transcript exon variant AA/-;A;AAA delins 0.700 1.000 1 2016 2016
dbSNP: rs113473633
rs113473633
4 1.000 0.040 4 102527974 intron variant A/G snv 1.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs113422568
rs113422568
2 10 102578181 intron variant G/A snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs2436845
rs2436845
4 8 102840179 intron variant G/A snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs4147915
rs4147915
3 19 1049306 synonymous variant C/A;G snv 0.18; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs7679673
rs7679673
28 0.677 0.440 4 105140377 intron variant C/A snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs3832566
rs3832566
1 8 105561297 intron variant A/- delins 0.29 0.700 1.000 1 2016 2016
dbSNP: rs3822411
rs3822411
DAP
2 5 10684830 intron variant T/C snv 0.42 0.700 1.000 1 2016 2016
dbSNP: rs6568466
rs6568466
2 6 107122949 intergenic variant T/C snv 0.58 0.700 1.000 1 2016 2016
dbSNP: rs36084354
rs36084354
3 19 1079960 missense variant G/A snv 5.7E-02 5.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs663045
rs663045
5 1 108200437 5 prime UTR variant G/C snv 0.55 0.700 1.000 1 2016 2016
dbSNP: rs582297
rs582297
ATM
2 11 108294680 intron variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs192022
rs192022
5 11 108378047 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1991651
rs1991651
4 8 10848901 downstream gene variant C/G snv 0.63 0.700 1.000 1 2016 2016
dbSNP: rs9400271
rs9400271
6 6 109286353 non coding transcript exon variant G/A snv 0.51 0.700 1.000 1 2016 2016
dbSNP: rs9320282
rs9320282
2 6 109298174 intron variant A/G snv 0.63 0.700 1.000 1 2016 2016
dbSNP: rs12208785
rs12208785
1 6 109381824 non coding transcript exon variant A/G snv 4.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs4807542
rs4807542
3 1.000 0.120 19 1104079 synonymous variant G/A;C snv 0.22; 1.8E-05 0.700 1.000 1 2016 2016