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: rs11980080
rs11980080
1 1.000 0.040 7 38317593 5 prime UTR variant T/C snv 5.7E-02 0.700 1.000 1 2009 2009
dbSNP: rs11984094
rs11984094
1 1.000 0.040 7 38323965 upstream gene variant A/G snv 0.14 0.700 1.000 1 2009 2009
dbSNP: rs12147516
rs12147516
1 1.000 0.040 14 22446824 intron variant G/T snv 0.13 0.700 1.000 1 2009 2009
dbSNP: rs12154478
rs12154478
1 1.000 0.040 7 38290217 downstream gene variant G/A snv 6.9E-02 0.700 1.000 1 2009 2009
dbSNP: rs12881142
rs12881142
1 1.000 0.040 14 22268637 intron variant C/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs12888049
rs12888049
1 1.000 0.040 14 22026498 regulatory region variant G/A snv 0.30 0.700 1.000 1 2009 2009
dbSNP: rs12891257
rs12891257
1 1.000 0.040 14 22393232 intron variant C/T snv 6.1E-02 0.700 1.000 1 2009 2009
dbSNP: rs1374230
rs1374230
1 1.000 0.040 2 214754055 intron variant A/G snv 0.31 0.700 1.000 1 2009 2009
dbSNP: rs137974312
rs137974312
1 1.000 0.040 1 7738307 missense variant C/T snv 2.1E-03 1.3E-03 0.010 1.000 1 2007 2007
dbSNP: rs1546833
rs1546833
1 1.000 0.040 7 38284089 intergenic variant C/T snv 0.42 0.700 1.000 1 2009 2009
dbSNP: rs16852600
rs16852600
1 1.000 0.040 2 214730921 non coding transcript exon variant C/T snv 0.30 0.26 0.700 1.000 1 2009 2009
dbSNP: rs17113407
rs17113407
1 1.000 0.040 14 22020341 intergenic variant T/C snv 6.7E-02 0.700 1.000 1 2009 2009
dbSNP: rs17161949
rs17161949
1 1.000 0.040 1 143550435 intron variant T/C snv 6.4E-02 0.700 1.000 1 2009 2009
dbSNP: rs17162074
rs17162074
1 1.000 0.040 1 143569860 intron variant G/A snv 6.5E-02 0.700 1.000 1 2009 2009
dbSNP: rs17162082
rs17162082
1 1.000 0.040 1 143545399 intron variant C/T snv 5.0E-02 0.700 1.000 1 2009 2009
dbSNP: rs17171329
rs17171329
1 1.000 0.040 7 38316944 downstream gene variant C/T snv 7.3E-02 0.700 1.000 1 2009 2009
dbSNP: rs17171331
rs17171331
1 1.000 0.040 7 38323356 upstream gene variant T/C snv 0.700 1.000 1 2009 2009
dbSNP: rs17496969
rs17496969
1 1.000 0.040 7 38324688 upstream gene variant T/C snv 5.5E-02 0.700 1.000 1 2009 2009
dbSNP: rs17794083
rs17794083
1 1.000 0.040 14 22457927 intron variant C/A snv 0.14 0.700 1.000 1 2009 2009
dbSNP: rs1860516
rs1860516
1 1.000 0.040 7 38286376 intergenic variant G/A snv 0.34 0.700 1.000 1 2009 2009
dbSNP: rs1860517
rs1860517
1 1.000 0.040 7 38291209 downstream gene variant A/G snv 0.53 0.700 1.000 1 2009 2009
dbSNP: rs1860520
rs1860520
1 1.000 0.040 7 38291670 missense variant C/A snv 6.2E-02 0.19 0.700 1.000 1 2009 2009
dbSNP: rs1860521
rs1860521
1 1.000 0.040 7 38291903 missense variant C/T snv 6.5E-02 0.19 0.700 1.000 1 2009 2009
dbSNP: rs1882704
rs1882704
1 1.000 0.040 14 22456360 intron variant G/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs1964986
rs1964986
1 1.000 0.040 7 142739784 upstream gene variant A/C snv 0.59 0.700 1.000 1 2009 2009