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: rs80356959
rs80356959
5 0.851 0.200 17 43045761 missense variant A/C;G snv 0.700 1.000 19 1996 2018
dbSNP: rs80359031
rs80359031
10 0.763 0.320 13 32363190 missense variant A/T snv 0.700 1.000 19 2000 2017
dbSNP: rs80359198
rs80359198
4 0.882 0.200 13 32394717 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 7.6E-05 0.700 1.000 19 1996 2018
dbSNP: rs137853011
rs137853011
16 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.700 1.000 18 2005 2018
dbSNP: rs62625308
rs62625308
8 0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05 0.700 1.000 18 1994 2016
dbSNP: rs80357061
rs80357061
4 0.882 0.200 17 43067616 missense variant A/C;G snv 0.700 1.000 18 2003 2016
dbSNP: rs80357268
rs80357268
6 0.827 0.200 17 43045773 missense variant C/T snv 4.0E-06 0.700 1.000 18 1998 2016
dbSNP: rs80357701
rs80357701
4 0.925 0.200 17 43092197 frameshift variant GCTT/- delins 0.700 1.000 18 1996 2016
dbSNP: rs80359212
rs80359212
11 0.763 0.320 13 32394814 stop gained C/T snv 1.2E-05 4.2E-05 0.700 1.000 18 1990 2015
dbSNP: rs397507419
rs397507419
7 0.807 0.200 13 32379886 frameshift variant AAAA/-;AAA;AAAAA delins 4.0E-06 0.700 1.000 17 1997 2015
dbSNP: rs80357123
rs80357123
7 0.827 0.200 17 43057078 stop gained G/A;C;T snv 1.2E-05 0.700 1.000 17 1997 2016
dbSNP: rs80357389
rs80357389
4 0.882 0.200 17 43076488 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 17 1997 2014
dbSNP: rs80357635
rs80357635
5 0.882 0.200 17 43092302 frameshift variant CT/- delins 4.0E-06 0.700 1.000 17 1998 2016
dbSNP: rs80359071
rs80359071
6 0.882 0.200 13 32363445 missense variant G/A snv 8.0E-06 0.700 1.000 17 2004 2016
dbSNP: rs80359351
rs80359351
6 0.851 0.200 13 32337161 frameshift variant ACAA/- delins 2.1E-05 0.700 1.000 17 1998 2015
dbSNP: rs55770810
rs55770810
10 0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 0.700 1.000 16 2001 2017
dbSNP: rs80356860
rs80356860
4 0.882 0.200 17 43063909 missense variant C/G;T snv 4.8E-05 0.700 1.000 16 2000 2016
dbSNP: rs80357711
rs80357711
4 0.882 0.200 17 43091496 frameshift variant T/- delins 4.2E-05 0.700 1.000 16 1996 2014
dbSNP: rs80357724
rs80357724
4 0.925 0.200 17 43094732 frameshift variant AA/-;A;AAA delins 0.700 1.000 16 1990 2016
dbSNP: rs80358981
rs80358981
7 0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05 0.700 1.000 16 1997 2015
dbSNP: rs80359550
rs80359550
8 0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04 0.700 1.000 16 1996 2016
dbSNP: rs81002899
rs81002899
5 0.851 0.280 13 32326615 splice donor variant T/A;C;G snv 0.700 1.000 16 2000 2016
dbSNP: rs11571658
rs11571658
6 0.851 0.240 13 32340630 frameshift variant TT/- del 2.8E-05 0.700 1.000 15 1996 2012
dbSNP: rs786203663
rs786203663
3 0.925 0.200 17 43049164 missense variant CCACA/TCACT mnv 0.700 1.000 15 1998 2016
dbSNP: rs80356862
rs80356862
3 0.925 0.200 17 43071046 missense variant G/C snv 4.0E-06 0.700 1.000 15 2003 2018