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: rs3842570
rs3842570
2 0.925 0.160 2 240594824 intron variant -/CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC delins 0.720 1.000 2 2010 2011
dbSNP: rs41266971
rs41266971
1 1.000 0.080 2 240591700 non coding transcript exon variant A/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs7607759
rs7607759
1 1.000 0.080 2 240596709 missense variant A/G;T snv 0.14 0.12 0.010 1.000 1 2005 2005
dbSNP: rs769690789
rs769690789
1 1.000 0.080 2 240593962 missense variant C/A snv 0.010 1.000 1 2012 2012
dbSNP: rs5030952
rs5030952
3 0.925 0.160 2 240603286 intron variant C/G;T snv 0.730 1.000 3 2010 2013
dbSNP: rs3792267
rs3792267
4 0.882 0.200 2 240591757 non coding transcript exon variant G/A snv 0.23 0.770 0.857 7 2006 2016
dbSNP: rs3749166
rs3749166
1 1.000 0.080 2 240598004 synonymous variant G/A snv 0.58 0.52 0.010 1.000 1 2010 2010
dbSNP: rs2975760
rs2975760
3 1.000 0.080 2 240591746 non coding transcript exon variant T/C snv 0.12 0.730 1.000 3 2006 2014