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: rs10519210
rs10519210
1 1.000 0.040 15 63445726 intergenic variant T/C;G snv 0.800 1.000 1 2010 2010
dbSNP: rs11172782
rs11172782
1 1.000 0.040 12 58865846 intergenic variant A/G snv 0.12 0.800 1.000 1 2010 2010
dbSNP: rs12638540
rs12638540
1 1.000 0.040 3 32447042 intron variant A/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs1520832
rs1520832
1 1.000 0.040 12 42859612 regulatory region variant T/C;G snv 0.800 1.000 1 2010 2010
dbSNP: rs2125623
rs2125623
1 1.000 0.040 15 31537504 intron variant C/T snv 0.33 0.800 1.000 1 2010 2010
dbSNP: rs2210327
rs2210327
1 1.000 0.040 9 18109237 intron variant A/T snv 3.4E-02 0.800 1.000 1 2010 2010
dbSNP: rs4528684
rs4528684
1 1.000 0.040 19 14240762 intergenic variant C/T snv 0.12 0.800 1.000 1 2010 2010
dbSNP: rs548097
rs548097
1 1.000 0.040 13 75202132 intergenic variant G/C;T snv 0.800 1.000 1 2010 2010
dbSNP: rs34376731
rs34376731
2 0.925 0.040 12 54581014 missense variant C/T snv 4.6E-03 1.9E-02 0.020 1.000 2 2008 2009
dbSNP: rs9909004
rs9909004
2 0.925 0.040 17 66310015 intron variant C/T snv 0.59 0.020 1.000 2 2017 2019
dbSNP: rs10932374
rs10932374
2 0.925 0.040 2 211379678 3 prime UTR variant G/A snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs13003941
rs13003941
2 0.925 0.040 2 211378978 3 prime UTR variant G/C;T snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs1337916669
rs1337916669
2 0.925 0.040 6 26092879 missense variant G/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1429117513
rs1429117513
2 0.925 0.040 12 6775316 synonymous variant T/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1595064
rs1595064
2 0.925 0.040 2 211378020 3 prime UTR variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs1595065
rs1595065
2 0.925 0.040 2 211377916 3 prime UTR variant G/A snv 0.73 0.010 1.000 1 2016 2016
dbSNP: rs1805126
rs1805126
2 0.925 0.040 3 38550915 synonymous variant A/G snv 0.39 0.44 0.010 1.000 1 2018 2018
dbSNP: rs2241562
rs2241562
2 0.925 0.040 5 175684809 intron variant G/C;T snv 1.0E-03 0.010 1.000 1 2018 2018
dbSNP: rs3212247
rs3212247
2 0.925 0.040 14 24340589 upstream gene variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs3212254
rs3212254
2 0.925 0.040 14 24336257 missense variant G/A;T snv 1.2E-05; 7.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs3748960
rs3748960
2 0.925 0.040 2 211383109 3 prime UTR variant C/T snv 0.96 0.010 1.000 1 2016 2016
dbSNP: rs6123837
rs6123837
2 0.925 0.040 20 58890516 synonymous variant G/A snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs6787362
rs6787362
2 0.925 0.040 3 69178228 intron variant A/G snv 9.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs762151808
rs762151808
2 0.925 0.040 14 94378559 missense variant A/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs9303504
rs9303504
2 0.925 0.040 17 66319248 intron variant G/C snv 0.59 0.010 1.000 1 2019 2019