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: rs3807306
rs3807306
8 0.776 0.320 7 128940626 intron variant G/A;T snv 0.800 1.000 2 2011 2012
dbSNP: rs2004640
rs2004640
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.790 1.000 9 2007 2014
dbSNP: rs10954214
rs10954214
4 0.851 0.160 7 128949579 3 prime UTR variant C/T snv 0.64 0.700 1.000 1 2019 2019
dbSNP: rs3778753
rs3778753
2 0.925 0.200 7 128939988 intron variant A/G snv 0.41 0.700 1.000 1 2019 2019
dbSNP: rs752637
rs752637
2 0.925 0.280 7 128939366 intron variant T/A;C snv 0.020 1.000 2 2009 2013
dbSNP: rs10954213
rs10954213
11 0.752 0.200 7 128949373 3 prime UTR variant G/A snv 0.58 0.010 1.000 1 2014 2014