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: rs27072
rs27072
11 0.807 0.120 5 1394407 3 prime UTR variant C/A;T snv 0.020 1.000 2 2010 2011
dbSNP: rs2975226
rs2975226
2 0.925 0.040 5 1445501 upstream gene variant A/T snv 0.50 0.020 1.000 2 2010 2020
dbSNP: rs6347
rs6347
4 0.851 0.080 5 1411297 synonymous variant T/C snv 0.23 0.32 0.020 1.000 2 2010 2010
dbSNP: rs2270912
rs2270912
1 1.000 0.040 5 1409721 splice region variant G/A snv 1.7E-03 1.9E-03 0.010 1.000 1 2004 2004
dbSNP: rs2455391
rs2455391
2 1.000 0.040 5 1443383 intron variant G/A snv 0.20 0.010 1.000 1 2012 2012
dbSNP: rs2652511
rs2652511
2 0.925 0.040 5 1446274 upstream gene variant A/G snv 0.51 0.010 1.000 1 2014 2014
dbSNP: rs464049
rs464049
1 1.000 0.040 5 1423790 intron variant A/G snv 0.53 0.010 1.000 1 2020 2020