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: rs199897804
rs199897804
1 1.000 0.036 X 18604645 missense variant C/A,T snp 4.9E-05 9.1E-05 0.700 1 2007 2007
dbSNP: rs2165109
rs2165109
3 0.878 0.107 2 111061081 intron variant A/C snp 0.25 0.700 1 2017 2017
dbSNP: rs2300206
rs2300206
10 0.744 0.250 20 34002002 intron variant G/C,T snp 0.74 0.700 1 2017 2017
dbSNP: rs2507997
rs2507997
10 0.744 0.250 6 31347004 intron variant A/G snp 0.20 0.700 1 2017 2017
dbSNP: rs2974935
rs2974935
10 0.744 0.250 1 155212052 non coding transcript exon variant G/A,C,T snp 3.2E-05; 0.56 0.700 1 2017 2017
dbSNP: rs3129817
rs3129817
12 0.724 0.286 6 30374976 intergenic variant G/A snp 0.12 0.700 1 2017 2017
dbSNP: rs481519
rs481519
10 0.744 0.250 3 27285723 intron variant C/A,T snp 0.62 0.700 1 2017 2017
dbSNP: rs540521894
rs540521894
1 1.000 0.036 1 156864760 missense variant C/T snp 4.0E-06; 5.6E-05 0.700 1 2007 2007
dbSNP: rs56084662
rs56084662
FRY
10 0.744 0.250 13 32295727 3 prime UTR variant G/A snp 2.9E-03 0.700 1 2017 2017
dbSNP: rs56404467
rs56404467
FRY
10 0.744 0.250 13 32265853 intron variant G/A snp 1.2E-02 0.700 1 2017 2017
dbSNP: rs58722170
rs58722170
3 0.878 0.107 1 37630749 intron variant G/C snp 0.19 0.700 1 2017 2017
dbSNP: rs6005807
rs6005807
3 0.878 0.107 22 28538325 intron variant T/C snp 0.87 0.700 1 2017 2017
dbSNP: rs62274041
rs62274041
3 0.878 0.107 3 156717851 G/A,T snp 3.9E-02 0.700 1 2017 2017
dbSNP: rs6755777
rs6755777
4 0.846 0.107 2 176178498 non coding transcript exon variant T/A,G snp 9.6E-05; 0.75 0.700 1 2017 2017
dbSNP: rs711830
rs711830
4 0.846 0.107 2 176172583 3 prime UTR variant A/G snp 0.75 0.700 1 2017 2017
dbSNP: rs7207826
rs7207826
3 0.878 0.107 17 48423311 intron variant T/C snp 0.32 0.700 1 2017 2017
dbSNP: rs73110464
rs73110464
10 0.744 0.250 12 52918828 intron variant C/T snp 0.12 0.700 1 2017 2017
dbSNP: rs7405776
rs7405776
5 0.846 0.107 17 37733029 intron variant G/A,C snp 0.62 0.700 1 2017 2017
dbSNP: rs746442213
rs746442213
ALK
1 1.000 0.036 2 29232307 missense variant C/A,T snp 4.0E-06; 1.2E-05 0.700 1 2007 2007
dbSNP: rs75316749
rs75316749
10 0.744 0.250 3 169043635 A/G snp 3.8E-02 0.700 1 2017 2017
dbSNP: rs7679673
rs7679673
21 0.699 0.321 4 105140377 intron variant C/A snp 0.51 0.700 1 2017 2017
dbSNP: rs7705526
rs7705526
14 0.784 0.214 5 1285859 intron variant C/A,T snp 0.29 0.700 1 2017 2017
dbSNP: rs7725218
rs7725218
10 0.744 0.250 5 1282299 intron variant G/A snp 0.38 0.700 1 2017 2017
dbSNP: rs7902587
rs7902587
2 0.923 0.071 10 103934543 intergenic variant C/T snp 0.11 0.700 1 2017 2017
dbSNP: rs7931342
rs7931342
11 0.744 0.250 11 69227030 intergenic variant T/G snp 0.56 0.700 1 2017 2017