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: rs78655421
rs78655421
4 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.880 1.000 6 1993 2014
dbSNP: rs151048781
rs151048781
1 0.925 0.160 7 117603730 missense variant G/A;C snv 5.6E-05; 8.0E-05 0.800 1.000 11 1995 2013
dbSNP: rs191456345
rs191456345
2 0.925 0.160 7 117536576 missense variant A/G snv 1.8E-04 1.1E-04 0.800 1.000 6 1995 2009
dbSNP: rs113993958
rs113993958
2 0.882 0.200 7 117530953 missense variant G/A;C;T snv 2.0E-05; 4.0E-06 0.800 0
dbSNP: rs121908752
rs121908752
4 0.851 0.160 7 117535285 missense variant T/G snv 1.9E-04 1.3E-04 0.800 1.000 0 1995 2007
dbSNP: rs121908759
rs121908759
4 0.827 0.160 7 117592032 missense variant G/A snv 1.0E-04 3.8E-04 0.800 1.000 0 1995 2007
dbSNP: rs121909011
rs121909011
4 0.807 0.160 7 117540230 missense variant C/T snv 5.6E-05 9.1E-05 0.800 1.000 0 1995 2007
dbSNP: rs145449046
rs145449046
2 0.925 0.160 7 117592541 stop gained C/G;T snv 1.3E-04; 5.5E-06 0.800 1.000 0 1995 2007
dbSNP: rs147422190
rs147422190
2 0.925 0.160 7 117548758 missense variant G/T snv 2.6E-04 3.3E-04 0.800 0
dbSNP: rs1800098
rs1800098
1 1.000 0.040 7 117590400 missense variant G/C;T snv 5.1E-03; 4.0E-06 0.800 0
dbSNP: rs200321110
rs200321110
2 0.925 0.160 7 117611646 missense variant G/A snv 2.6E-04 2.4E-04 0.800 0
dbSNP: rs397508759
rs397508759
4 0.851 0.160 7 117534363 stop gained G/A;T snv 4.0E-06 0.800 1.000 0 1995 2007
dbSNP: rs397508783
rs397508783
2 0.925 0.160 7 117535363 missense variant T/A snv 2.4E-05 7.0E-06 0.800 1.000 0 1995 2007
dbSNP: rs80034486
rs80034486
2 0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04 0.720 1.000 0 2007 2011
dbSNP: rs113993959
rs113993959
19 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.710 1.000 0 1998 1998
dbSNP: rs74551128
rs74551128
4 0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05 0.710 1.000 0 1998 1998
dbSNP: rs77010898
rs77010898
4 0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 0.710 1.000 0 2011 2011
dbSNP: rs73715573
rs73715573
2 0.925 0.160 7 117548630 intron variant T/G snv 8.6E-03; 5.9E-05 9.0E-03 0.700 1.000 10 1992 2007
dbSNP: rs397508463
rs397508463
1 1.000 0.040 7 117606704 missense variant T/A snv 8.0E-06 2.8E-05 0.700 1.000 6 1996 2011
dbSNP: rs774488954
rs774488954
4 0.882 0.040 X 19008001 frameshift variant A/-;AA delins 0.700 1.000 1 2016 2016
dbSNP: rs879255538
rs879255538
4 0.882 0.040 X 18994920 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs879255539
rs879255539
4 0.882 0.040 X 19003070 frameshift variant CACAG/TCT delins 0.700 1.000 1 2016 2016
dbSNP: rs1057516457
rs1057516457
2 0.925 0.160 7 117664711 frameshift variant CA/- delins 0.700 0
dbSNP: rs113993960
rs113993960
6 0.827 0.160 7 117559591 inframe deletion CTT/- delins 8.0E-03 0.700 0
dbSNP: rs121908745
rs121908745
2 0.925 0.160 7 117559587 inframe deletion ATC/- delins 0.700 0