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: rs587779001
rs587779001
3 1.000 0.080 3 36993521 5 prime UTR variant C/A;T snv 4.0E-06 0.700 1.000 2 2011 2014
dbSNP: rs587778967
rs587778967
8 0.925 0.200 3 36993548 start lost A/C;G snv 0.700 1.000 2 2001 2015
dbSNP: rs72481822
rs72481822
4 0.925 0.160 3 36993550 start lost G/A;T snv 0.700 0
dbSNP: rs1064795341
rs1064795341
1 3 36993553 frameshift variant CGTGGCAGGGGTT/- delins 0.700 0
dbSNP: rs869312767
rs869312767
2 1.000 0.160 3 36993572 stop gained CG/TA mnv 0.700 0
dbSNP: rs759680369
rs759680369
1 3 36993574 synonymous variant G/A;C;T snv 8.0E-06 0.700 1.000 2 2013 2018
dbSNP: rs587779008
rs587779008
3 1.000 0.160 3 36993584 stop gained G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs63750057
rs63750057
2 1.000 0.160 3 36993584 frameshift variant -/A;CCCA delins 0.700 0
dbSNP: rs63750706
rs63750706
4 0.882 0.160 3 36993609 missense variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs63750822
rs63750822
3 1.000 0.160 3 36993610 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs63750823
rs63750823
3 1.000 0.160 3 36993614 stop gained G/A;T snv 0.700 0
dbSNP: rs63750792
rs63750792
4 0.925 0.160 3 36993630 missense variant C/T snv 0.700 0
dbSNP: rs63750580
rs63750580
4 0.925 0.160 3 36993659 missense variant A/C;G snv 0.700 0
dbSNP: rs587778888
rs587778888
2 1.000 0.160 3 36993660 missense variant A/C;G snv 0.700 1.000 8 2002 2016
dbSNP: rs267607709
rs267607709
3 0.925 0.160 3 36993664 splice donor variant G/A;T snv 0.700 1.000 2 2005 2014
dbSNP: rs267607710
rs267607710
3 1.000 0.160 3 36993668 missense variant G/A;C snv 2.8E-05 0.700 1.000 2 2009 2013
dbSNP: rs267607712
rs267607712
3 1.000 0.160 3 36996617 splice acceptor variant A/G;T snv 0.700 0
dbSNP: rs587778896
rs587778896
2 1.000 0.160 3 36996619 frameshift variant T/- delins 0.700 0
dbSNP: rs63751094
rs63751094
5 0.925 0.160 3 36996624 stop lost A/G;T snv 0.700 1.000 5 2003 2015
dbSNP: rs63750867
rs63750867
1 3 36996628 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs63750028
rs63750028
3 1.000 0.160 3 36996656 frameshift variant AA/-;A;AAA delins 0.700 1.000 2 2003 2011
dbSNP: rs63751428
rs63751428
5 0.882 0.160 3 36996686 stop gained C/A;T snv 0.700 0
dbSNP: rs63750850
rs63750850
3 1.000 0.160 3 36996689 missense variant G/A snv 0.700 1.000 5 2002 2011
dbSNP: rs1553638868
rs1553638868
1 3 36996697 frameshift variant C/ATCTT delins 0.700 0
dbSNP: rs63750206
rs63750206
9 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.700 1.000 14 1995 2013