Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1006906224
rs1006906224
NSD1
1.000 0.040 5 177211437 stop gained C/G;T snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.700 0
dbSNP: rs1057520339
rs1057520339
NSD1
1.000 0.040 5 177210761 stop gained C/T snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.700 0
dbSNP: rs1060501490
rs1060501490
NSD1
1.000 0.040 5 177211015 frameshift variant TGAGG/- delins
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.700 0
dbSNP: rs1060501492
rs1060501492
NSD1
1.000 0.040 5 177135982 frameshift variant GA/- delins
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.700 0
dbSNP: rs1060501493
rs1060501493
NSD1
1.000 0.040 5 177292121 stop gained C/G snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.700 0
dbSNP: rs1060501494
rs1060501494
NSD1
1.000 0.040 5 177293855 stop gained C/T snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.700 0
dbSNP: rs1060501497
rs1060501497
NSD1
1.000 0.040 5 177210051 frameshift variant T/- delins
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.700 0
dbSNP: rs1060501498
rs1060501498
NSD1
1.000 0.040 5 177267691 missense variant T/C snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.700 0
dbSNP: rs1131692328
rs1131692328
NSD1
1.000 0.040 5 177209948 stop gained C/A;G;T snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.700 0
dbSNP: rs121908067
rs121908067
NSD1
1.000 0.040 5 177209709 stop gained C/G snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.700 0
dbSNP: rs121908070
rs121908070
NSD1
1.000 0.040 5 177238273 stop gained C/T snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.700 0
dbSNP: rs121908071
rs121908071
NSD1
1.000 0.040 5 177293973 missense variant G/A snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.700 0
dbSNP: rs1286331975
rs1286331975
NSD1
1.000 0.040 5 177210272 stop gained G/A;T snv 4.0E-06
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.700 0
dbSNP: rs1554185405
rs1554185405
NSD1
1.000 0.040 5 177191939 stop gained G/A snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.700 0
dbSNP: rs1554189131
rs1554189131
NSD1
1.000 0.040 5 177210215 stop gained A/T snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.700 0
dbSNP: rs1554189482
rs1554189482
NSD1
1.000 0.040 5 177210710 frameshift variant G/- delins
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.700 0
dbSNP: rs1554189490
rs1554189490
NSD1
1.000 0.040 5 177210713 frameshift variant -/AGCAAATCAAGCTC delins
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.700 0
dbSNP: rs1554189941
rs1554189941
NSD1
1.000 0.040 5 177211403 frameshift variant AA/- del
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.700 0
dbSNP: rs1554189972
rs1554189972
NSD1
1.000 0.040 5 177211433 stop gained -/TTCAGACTGTGTTACTAGG delins
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.700 0
dbSNP: rs1554190214
rs1554190214
NSD1
1.000 0.040 5 177211783 frameshift variant TT/- delins
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.700 0
dbSNP: rs1554190247
rs1554190247
NSD1
1.000 0.040 5 177211821 frameshift variant T/- del
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.700 0
dbSNP: rs1554195302
rs1554195302
NSD1
1.000 0.040 5 177235892 frameshift variant C/- del
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.700 0
dbSNP: rs1554195815
rs1554195815
NSD1
1.000 0.040 5 177238235 splice acceptor variant AGGTAA/G delins
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.700 0
dbSNP: rs1554195840
rs1554195840
NSD1
1.000 0.040 5 177238281 frameshift variant -/CT delins
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.700 0
dbSNP: rs1554199368
rs1554199368
NSD1
0.827 0.160 5 177256956 missense variant C/T snv
CUI: C1864903
Disease: Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia 		0.700 0