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: rs797045826
rs797045826
NSD1
1 1.000 0.040 5 177283869 frameshift variant -/TG delins 0.700 0
dbSNP: rs797045830
rs797045830
NSD1
1 1.000 0.040 5 177292000 frameshift variant -/TGTGC delins 0.700 0
dbSNP: rs1554189972
rs1554189972
NSD1
1 1.000 0.040 5 177211433 stop gained -/TTCAGACTGTGTTACTAGG delins 0.700 0
dbSNP: rs794729232
rs794729232
NSD1
1 1.000 0.040 5 177210141 frameshift variant A/- delins 0.700 1.000 1 2003 2003
dbSNP: rs1562206791
rs1562206791
NSD1
2 0.925 0.080 5 177210250 frameshift variant A/- delins 0.700 0
dbSNP: rs1562213381
rs1562213381
NSD1
1 1.000 0.040 5 177211935 frameshift variant A/- del 0.700 0
dbSNP: rs587784079
rs587784079
NSD1
1 1.000 0.040 5 177210444 frameshift variant A/- delins 0.700 0
dbSNP: rs587784100
rs587784100
NSD1
1 1.000 0.040 5 177211693 frameshift variant A/- delins 0.700 0
dbSNP: rs797045816
rs797045816
NSD1
1 1.000 0.040 5 177238334 frameshift variant A/- delins 0.700 0
dbSNP: rs587784112
rs587784112
NSD1
1 1.000 0.040 5 177239860 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs587784146
rs587784146
NSD1
1 1.000 0.040 5 177269717 missense variant A/C snv 0.700 0
dbSNP: rs587784204
rs587784204
NSD1
1 1.000 0.040 5 177293853 missense variant A/C snv 0.700 0
dbSNP: rs398124378
rs398124378
NSD1
1 1.000 0.040 5 177257029 missense variant A/C;G snv 0.700 0
dbSNP: rs201857437
rs201857437
NSD1
1 1.000 0.040 5 177257077 missense variant A/G snv 8.7E-05 3.7E-04 0.700 0
dbSNP: rs587784120
rs587784120
NSD1
1 1.000 0.040 5 177248178 splice region variant A/G snv 0.700 0
dbSNP: rs587784150
rs587784150
NSD1
1 1.000 0.040 5 177269769 missense variant A/G snv 0.700 0
dbSNP: rs587784156
rs587784156
NSD1
1 1.000 0.040 5 177280740 missense variant A/G snv 0.700 0
dbSNP: rs587784163
rs587784163
NSD1
1 1.000 0.040 5 177282463 splice acceptor variant A/G snv 0.700 0
dbSNP: rs587784178
rs587784178
NSD1
1 1.000 0.040 5 177283836 missense variant A/G snv 0.700 0
dbSNP: rs587784191
rs587784191
NSD1
2 0.925 0.040 5 177292051 missense variant A/G snv 0.700 0
dbSNP: rs587784196
rs587784196
NSD1
1 1.000 0.040 5 177292113 missense variant A/G snv 0.700 0
dbSNP: rs587784208
rs587784208
NSD1
1 1.000 0.040 5 177293925 missense variant A/G snv 0.700 0
dbSNP: rs797045825
rs797045825
NSD1
1 1.000 0.040 5 177282562 missense variant A/G snv 0.700 0
dbSNP: rs1057516048
rs1057516048
NSD1
8 0.925 0.200 5 177283796 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs587784133
rs587784133
NSD1
1 1.000 0.040 5 177259987 splice acceptor variant A/T snv 0.700 0