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: 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: rs1554206836
rs1554206836
NSD1
1 1.000 0.040 5 177292131 frameshift variant -/G delins 0.700 0
dbSNP: rs1554207316
rs1554207316
NSD1
1 1.000 0.040 5 177293981 missense variant C/T snv 0.700 0
dbSNP: rs1562099585
rs1562099585
NSD1
1 1.000 0.040 5 177135999 frameshift variant C/- del 0.700 0
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: rs1562246533
rs1562246533
NSD1
1 1.000 0.040 5 177239866 splice donor variant G/A snv 0.700 0
dbSNP: rs1562269320
rs1562269320
NSD1
1 1.000 0.040 5 177259998 frameshift variant -/G delins 0.700 0
dbSNP: rs1562292879
rs1562292879
NSD1
1 1.000 0.040 5 177280666 frameshift variant C/- del 0.700 0
dbSNP: rs1562295135
rs1562295135
NSD1
1 1.000 0.040 5 177282569 frameshift variant -/T ins 0.700 0
dbSNP: rs1562296511
rs1562296511
NSD1
1 1.000 0.040 5 177283929 splice donor variant G/A snv 0.700 0
dbSNP: rs1562312238
rs1562312238
NSD1
1 1.000 0.040 5 177295333 frameshift variant GACA/- delins 0.700 0
dbSNP: rs201327209
rs201327209
NSD1
1 1.000 0.040 5 177210738 stop gained C/A;T snv 1.2E-03 0.700 0
dbSNP: rs374740802
rs374740802
NSD1
2 0.925 0.040 5 177210749 stop gained C/G;T snv 1.6E-05 0.700 0
dbSNP: rs398124378
rs398124378
NSD1
1 1.000 0.040 5 177257029 missense variant A/C;G snv 0.700 0
dbSNP: rs398124379
rs398124379
NSD1
1 1.000 0.040 5 177267692 frameshift variant TCTG/- delins 0.700 0
dbSNP: rs570278338
rs570278338
NSD1
2 0.925 0.040 5 177246710 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs587784068
rs587784068
NSD1
1 1.000 0.040 5 177204132 frameshift variant G/- delins 0.700 0
dbSNP: rs587784071
rs587784071
NSD1
1 1.000 0.040 5 177209661 stop gained G/A snv 0.700 0
dbSNP: rs587784073
rs587784073
NSD1
1 1.000 0.040 5 177209854 frameshift variant T/- delins 0.700 0
dbSNP: rs587784076
rs587784076
NSD1
2 0.925 0.040 5 177210209 stop gained C/T snv 0.700 0