Source: ALL
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: rs121908068
rs121908068
NSD1
1 1.000 0.040 5 177292124 missense variant C/G;T snv 7.6E-05 0.800 1.000 4 2002 2004
dbSNP: rs121908069
rs121908069
NSD1
1 1.000 0.040 5 177293916 missense variant G/C snv 0.800 1.000 4 2002 2004
dbSNP: rs587784169
rs587784169
NSD1
2 0.925 0.040 5 177282523 missense variant G/A;C snv 0.800 1.000 4 2002 2004
dbSNP: rs587784174
rs587784174
NSD1
2 0.925 0.040 5 177283791 missense variant G/A snv 0.800 1.000 4 2002 2004
dbSNP: rs587784176
rs587784176
NSD1
2 0.925 0.040 5 177283826 missense variant C/A;T snv 0.800 1.000 4 2002 2004
dbSNP: rs587784177
rs587784177
NSD1
20 0.790 0.280 5 177283827 missense variant G/A snv 0.800 1.000 4 2002 2004
dbSNP: rs797045057
rs797045057
NSD1
1 1.000 0.040 5 177282522 stop gained C/T snv 0.700 1.000 2 2005 2016
dbSNP: rs1057516048
rs1057516048
NSD1
8 0.925 0.200 5 177283796 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1562305653
rs1562305653
NSD1
1 1.000 0.040 5 177292061 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs587784077
rs587784077
NSD1
1 1.000 0.040 5 177210230 stop gained C/G;T snv 0.700 1.000 1 2005 2005
dbSNP: rs587784137
rs587784137
NSD1
1 1.000 0.040 5 177260120 stop gained C/T snv 0.700 1.000 1 2007 2007
dbSNP: rs587784148
rs587784148
NSD1
2 0.925 0.040 5 177269729 stop gained C/T snv 0.700 1.000 1 2003 2003
dbSNP: rs797045058
rs797045058
NSD1
1 1.000 0.040 5 177295334 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1006906224
rs1006906224
NSD1
1 1.000 0.040 5 177211437 stop gained C/G;T snv 0.700 0
dbSNP: rs1131692328
rs1131692328
NSD1
1 1.000 0.040 5 177209948 stop gained C/A;G;T snv 0.700 0
dbSNP: rs121908067
rs121908067
NSD1
1 1.000 0.040 5 177209709 stop gained C/G snv 0.700 0
dbSNP: rs121908070
rs121908070
NSD1
1 1.000 0.040 5 177238273 stop gained C/T snv 0.700 0
dbSNP: rs121908071
rs121908071
NSD1
1 1.000 0.040 5 177293973 missense variant G/A snv 0.700 0
dbSNP: rs1286331975
rs1286331975
NSD1
1 1.000 0.040 5 177210272 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1554199368
rs1554199368
NSD1
12 0.827 0.160 5 177256956 missense variant C/T snv 0.700 0
dbSNP: rs1554200207
rs1554200207
NSD1
1 1.000 0.040 5 177260091 missense variant C/G snv 0.700 0
dbSNP: rs1554204122
rs1554204122
NSD1
1 1.000 0.040 5 177280700 missense variant T/A snv 0.700 0
dbSNP: rs1554204921
rs1554204921
NSD1
1 1.000 0.040 5 177283797 missense variant T/C snv 0.700 0
dbSNP: rs1554206783
rs1554206783
NSD1
1 1.000 0.040 5 177292023 stop gained C/T snv 0.700 0
dbSNP: rs1554207316
rs1554207316
NSD1
1 1.000 0.040 5 177293981 missense variant C/T snv 0.700 0