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: rs1036429
rs1036429
SNRPF ; CCDC38
4 12 95877650 intron variant T/C snv 0.79 0.700 1.000 1 2011 2011
dbSNP: rs153916
rs153916
SPATA9
4 1.000 0.040 5 95700996 upstream gene variant C/A;G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs10512249
rs10512249
PTCH1
2 9 95494027 intron variant G/A snv 0.11 0.700 1.000 1 2010 2010
dbSNP: rs2282041
rs2282041
PTCH1
2 9 95486105 intron variant A/G snv 0.12 0.700 1.000 1 2010 2010
dbSNP: rs3824488
rs3824488
PTCH1
2 9 95474382 intron variant C/T snv 6.5E-02 0.700 1.000 1 2010 2010
dbSNP: rs16909898
rs16909898
PTCH1 ; LOC100507346
4 9 95468726 intron variant A/G snv 8.4E-02 0.10 0.700 1.000 1 2010 2010
dbSNP: rs2282043
rs2282043
PTCH1
2 9 95450326 3 prime UTR variant C/T snv 6.5E-02 0.700 1.000 1 2010 2010
dbSNP: rs16909859
rs16909859
PTCH1
2 9 95442510 downstream gene variant G/A snv 0.14 0.700 1.000 1 2010 2010
dbSNP: rs16909856
rs16909856 		2 9 95442211 downstream gene variant G/A;C;T snv 0.700 1.000 1 2010 2010
dbSNP: rs2904259
rs2904259
FAM13A
5 4 88964563 intron variant T/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs2013701
rs2013701
FAM13A
5 1.000 0.040 4 88963935 intron variant G/T snv 0.51 0.700 1.000 1 2010 2010
dbSNP: rs7671167
rs7671167
FAM13A
7 0.925 0.040 4 88962828 intron variant C/T snv 0.53 0.700 1.000 1 2010 2010
dbSNP: rs10922530
rs10922530
KYAT3
2 1 88961569 intron variant G/A snv 0.31 0.700 1.000 1 2007 2007
dbSNP: rs2045517
rs2045517
FAM13A ; LOC105377327
5 4 88949813 intron variant C/T snv 0.49 0.700 1.000 1 2010 2010
dbSNP: rs2869967
rs2869967
FAM13A ; LOC105377327
11 0.827 0.120 4 88948181 intron variant T/C snv 0.49 0.700 1.000 1 2010 2010
dbSNP: rs2869966
rs2869966
FAM13A ; LOC105377327
9 1.000 0.040 4 88947927 intron variant C/T snv 0.47 0.700 1.000 1 2010 2010
dbSNP: rs6830970
rs6830970
FAM13A
5 1.000 0.040 4 88855930 3 prime UTR variant A/G snv 0.38 0.700 1.000 1 2010 2010
dbSNP: rs10021465
rs10021465
FAM13A
4 4 88829210 intron variant A/G snv 0.37 0.700 1.000 1 2010 2010
dbSNP: rs12914385
rs12914385
CHRNA3
18 0.790 0.160 15 78606381 intron variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2036527
rs2036527 		12 0.851 0.080 15 78559273 regulatory region variant G/A snv 0.29 0.700 1.000 1 2011 2011
dbSNP: rs12716852
rs12716852
WWOX
4 16 78154841 intron variant G/A snv 0.57 0.700 1.000 1 2011 2011
dbSNP: rs10824425
rs10824425 		2 10 76580552 intergenic variant G/C snv 0.42 0.700 1.000 1 2014 2014
dbSNP: rs2637266
rs2637266 		2 10 76571560 intergenic variant A/G snv 0.48 0.700 1.000 1 2014 2014
dbSNP: rs2637261
rs2637261 		2 10 76560835 non coding transcript exon variant C/T snv 0.54 0.700 1.000 1 2014 2014
dbSNP: rs2637260
rs2637260
LRMDA
2 10 76560588 intron variant T/C snv 0.53 0.700 1.000 1 2014 2014