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: rs63751273
rs63751273
42 0.645 0.280 17 46010389 missense variant C/T snv 0.900 1.000 35 1998 2019
dbSNP: rs63750570
rs63750570
8 0.827 0.120 17 46018629 missense variant G/A snv 0.850 1.000 26 1998 2017
dbSNP: rs63750376
rs63750376
7 0.827 0.120 17 45996657 missense variant G/T snv 0.820 0.957 23 1998 2010
dbSNP: rs63750416
rs63750416
7 0.851 0.120 17 46010373 missense variant A/C snv 0.720 1.000 21 1998 2017
dbSNP: rs63750711
rs63750711
2 0.925 0.120 17 46018645 missense variant A/T snv 0.810 1.000 21 1998 2010
dbSNP: rs63750092
rs63750092
3 0.882 0.120 17 46014277 missense variant A/T snv 0.800 1.000 20 1998 2005
dbSNP: rs63751438
rs63751438
16 0.776 0.120 17 46010388 missense variant C/T snv 0.900 1.000 12 1999 2019
dbSNP: rs63751011
rs63751011
4 0.925 0.120 17 46010418 intron variant C/T snv 0.700 1.000 11 1998 2016
dbSNP: rs63750053
rs63750053
5 0.827 0.120 14 73192721 missense variant G/T snv 0.700 1.000 9 1998 2017
dbSNP: rs63750083
rs63750083
13 0.732 0.160 14 73219177 missense variant C/A;T snv 0.700 1.000 6 2006 2017
dbSNP: rs63750231
rs63750231
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.700 1.000 6 1995 2017
dbSNP: rs63750526
rs63750526
10 0.776 0.160 14 73192832 missense variant C/A snv 0.700 1.000 5 1995 2015
dbSNP: rs1990622
rs1990622
16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.040 1.000 4 2010 2017
dbSNP: rs5848
rs5848
17 0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41 0.040 1.000 4 2008 2016
dbSNP: rs63750450
rs63750450
4 0.851 0.120 14 73173571 missense variant A/G snv 0.700 1.000 4 1998 2017
dbSNP: rs63751278
rs63751278
6 0.827 0.120 14 73173631 missense variant A/G snv 0.700 1.000 4 1997 2017
dbSNP: rs63751287
rs63751287
13 0.742 0.120 14 73192792 missense variant A/G;T snv 0.710 1.000 4 2001 2018
dbSNP: rs121909330
rs121909330
VCP
11 0.752 0.200 9 35065364 missense variant G/A;C;T snv 0.030 1.000 3 2005 2012
dbSNP: rs1566650594
rs1566650594
4 0.851 0.120 14 73206384 splice acceptor variant A/T snv 0.700 1.000 3 2010 2017
dbSNP: rs63751165
rs63751165
3 0.925 0.120 17 46010401 missense variant G/A;T snv 0.830 1.000 3 1999 2005
dbSNP: rs121909329
rs121909329
VCP
11 0.763 0.200 9 35065363 missense variant C/A;G;T snv 0.020 1.000 2 2008 2009
dbSNP: rs121909331
rs121909331
VCP
5 0.851 0.200 9 35064167 missense variant G/T snv 0.020 1.000 2 2009 2012
dbSNP: rs3849942
rs3849942
9 0.776 0.200 9 27543283 non coding transcript exon variant T/A;C snv 0.020 1.000 2 2012 2018
dbSNP: rs387906709
rs387906709
9 0.776 0.120 X 56565363 missense variant C/A;T snv 0.020 1.000 2 2019 2019
dbSNP: rs63751399
rs63751399
3 0.882 0.120 14 73171047 missense variant T/A;C snv 0.810 1.000 2 2004 2010