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: rs63750875
rs63750875
12 0.744 0.179 2 47475171 missense variant G/A,C snp 1.6E-05 3.2E-05 0.760 1.000 16 1999 2015
dbSNP: rs63749993
rs63749993
4 1.000 0.143 2 47476424 missense variant T/G snp 0.730 0.667 7 1999 2015
dbSNP: rs63750206
rs63750206
6 0.878 0.179 3 36996701 missense variant G/A,T snp 0.720 0.500 22 1996 2017
dbSNP: rs63750781
rs63750781
5 0.878 0.143 3 37004444 stop gained C/G,T snp 4.0E-06 0.710 1.000 42 1996 2017
dbSNP: rs63751194
rs63751194
4 0.923 0.143 3 37017508 stop gained C/A,T snp 4.0E-06 0.710 1.000 27 1999 2015
dbSNP: rs63750217
rs63750217
7 0.821 0.143 3 37048955 missense variant G/A,C snp 0.710 1.000 14 1999 2015
dbSNP: rs267608120
rs267608120
6 0.846 0.143 2 47806609 frameshift variant GCAAG/G in-del 0.710 1.000 7 2003 2015
dbSNP: rs786201042
rs786201042
6 0.846 0.214 2 47783243 stop gained C/G,T snp 2.5E-05 3.2E-05 0.710 1.000 6 2010 2017
dbSNP: rs63750211
rs63750211
3 0.923 0.143 3 37008904 missense variant A/G snp 0.710 1.000 3 2013 2017
dbSNP: rs63750741
rs63750741
7 0.821 0.179 2 47799329 missense variant T/C snp 1.2E-05 0.710 1.000 3 2004 2013
dbSNP: rs63751207
rs63751207
6 0.846 0.214 2 47466718 missense variant G/A,C,T snp 8.0E-06 3.2E-05 0.710 1.000 3 1994 2017
dbSNP: rs587778937
rs587778937
1 1.000 0.143 3 37040291 missense variant T/C snp 0.710 1.000 2 2014 2015
dbSNP: rs63750042
rs63750042
3 0.923 0.214 2 47408415 stop gained C/G,T snp 4.0E-06 0.710 1.000 2 2010 2017
dbSNP: rs587778914
rs587778914
1 1.000 0.143 3 36996645 stop lost A/C snp 0.710 1.000 1 2013 2013
dbSNP: rs63749818
rs63749818
1 1.000 0.143 3 37007002 stop gained C/A,G snp 0.710 1.000 1 2013 2013
dbSNP: rs63749939
rs63749939
6 0.846 0.143 3 36996702 missense variant G/A snp 0.710 1.000 1 2009 2009
dbSNP: rs63750493
rs63750493
3 1.000 0.143 2 47475100 stop gained C/G snp 0.710 1.000 1 2011 2011
dbSNP: rs63750693
rs63750693
4 0.846 0.143 3 37047652 missense variant T/A,C snp 0.710 1.000 1 2010 2010
dbSNP: rs63750710
rs63750710
3 0.923 0.143 3 37020411 missense variant A/C snp 0.710 1.000 1 1997 1997
dbSNP: rs63750899
rs63750899
5 0.846 0.179 3 37048562 missense variant C/T snp 0.710 1.000 1 2004 2004
dbSNP: rs63751608
rs63751608
2 0.923 0.143 3 37042321 missense variant T/C snp 0.710 1.000 1 2005 2005
dbSNP: rs267608087
rs267608087
4 0.923 0.143 2 47803508 frameshift variant C/CC,CCC in-del 0.700 28 1997 2018
dbSNP: rs587782425
rs587782425
4 0.923 0.143 2 47803501 frameshift variant C/CC in-del 0.700 28 1997 2018
dbSNP: rs121434629
rs121434629
6 0.878 0.179 7 6005918 missense variant C/A,T snp 1.6E-04; 8.1E-06 2.5E-04 0.700 26 1995 2018
dbSNP: rs63749932
rs63749932
4 0.923 0.143 2 47476399 stop gained C/G,T snp 1.6E-05; 4.0E-06 3.2E-05 0.700 22 1998 2016