Gene: NSD1 ×
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: rs587784141
rs587784141
NSD1
2 0.925 0.040 5 177267719 splice donor variant G/C snv 0.700 1.000 4 2003 2005
dbSNP: rs587784199
rs587784199
NSD1
2 0.925 0.040 5 177292149 stop gained C/A;T snv 8.0E-06 0.700 1.000 4 2005 2016
dbSNP: rs863224905
rs863224905
NSD1
2 0.925 0.040 5 177269601 splice acceptor variant G/C snv 0.700 1.000 4 2003 2005
dbSNP: rs886039579
rs886039579
NSD1
1 1.000 0.040 5 177280835 splice donor variant G/A;T snv 0.700 1.000 4 2003 2005
dbSNP: rs1562305920
rs1562305920
NSD1
1 1.000 0.040 5 177292119 missense variant T/G snv 0.700 1.000 3 2005 2017
dbSNP: rs587784148
rs587784148
NSD1
2 0.925 0.040 5 177269729 stop gained C/T snv 0.700 1.000 3 2003 2012
dbSNP: rs587784173
rs587784173
NSD1
2 0.925 0.040 5 177283790 stop gained C/T snv 0.700 1.000 3 2003 2017
dbSNP: rs587784174
rs587784174
NSD1
2 0.925 0.040 5 177283791 missense variant G/A snv 0.700 1.000 3 2003 2015
dbSNP: rs1562305497
rs1562305497
NSD1
1 1.000 0.040 5 177292010 frameshift variant A/- delins 0.700 1.000 2 2005 2005
dbSNP: rs587784095
rs587784095
NSD1
2 0.925 0.040 5 177211466 stop gained C/A;T snv 0.700 1.000 2 2005 2012
dbSNP: rs587784117
rs587784117
NSD1
2 0.925 0.040 5 177246716 stop gained C/T snv 0.700 1.000 2 2003 2017
dbSNP: rs587784176
rs587784176
NSD1
2 0.925 0.040 5 177283826 missense variant C/A;T snv 0.700 1.000 2 2003 2014
dbSNP: rs587784191
rs587784191
NSD1
2 0.925 0.040 5 177292051 missense variant A/G snv 0.700 1.000 2 2005 2012
dbSNP: rs1554189512
rs1554189512
NSD1
1 1.000 0.040 5 177210732 frameshift variant -/A delins 0.700 1.000 1 2005 2005
dbSNP: rs1057520339
rs1057520339
NSD1
1 1.000 0.040 5 177210761 stop gained C/T snv 0.700 0
dbSNP: rs1060501490
rs1060501490
NSD1
1 1.000 0.040 5 177211015 frameshift variant TGAGG/- delins 0.700 0
dbSNP: rs1060501492
rs1060501492
NSD1
1 1.000 0.040 5 177135982 frameshift variant GA/- delins 0.700 0
dbSNP: rs1060501493
rs1060501493
NSD1
1 1.000 0.040 5 177292121 stop gained C/G snv 0.700 0
dbSNP: rs1060501494
rs1060501494
NSD1
1 1.000 0.040 5 177293855 stop gained C/T snv 0.700 0
dbSNP: rs1060501497
rs1060501497
NSD1
1 1.000 0.040 5 177210051 frameshift variant T/- delins 0.700 0
dbSNP: rs1060501498
rs1060501498
NSD1
1 1.000 0.040 5 177267691 missense variant T/C snv 0.700 0
dbSNP: rs1554185405
rs1554185405
NSD1
1 1.000 0.040 5 177191939 stop gained G/A snv 0.700 0
dbSNP: rs1554189131
rs1554189131
NSD1
1 1.000 0.040 5 177210215 stop gained A/T snv 0.700 0
dbSNP: rs1554189490
rs1554189490
NSD1
1 1.000 0.040 5 177210713 frameshift variant -/AGCAAATCAAGCTC delins 0.700 0
dbSNP: rs1554190214
rs1554190214
NSD1
1 1.000 0.040 5 177211783 frameshift variant TT/- delins 0.700 0