DDX41, DEAD-box helicase 41, 51428

N. diseases: 54; N. variants: 10
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs869312828
rs869312828 		0.807 0.080 5 177512369 missense variant C/T snv
CUI: C4225174
Disease: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO
MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO 		0.800 1.000 2 2015 2016
dbSNP: rs142143752
rs142143752 		1.000 5 177515766 missense variant G/A snv 1.2E-04 1.7E-04
CUI: C4225174
Disease: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO
MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO 		0.800 0
dbSNP: rs747072227
rs747072227 		1.000 5 177513396 missense variant A/G snv 1.6E-05 2.1E-05
CUI: C4225174
Disease: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO
MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO 		0.800 0
dbSNP: rs141601766
rs141601766 		1.000 5 177516943 start lost C/T snv 8.1E-05 1.2E-04
CUI: C4225174
Disease: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO
MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1554111073
rs1554111073 		1.000 5 177513440 frameshift variant -/T delins
CUI: C4225174
Disease: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO
MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1554111653
rs1554111653 		1.000 5 177516169 frameshift variant T/- delins
CUI: C4225174
Disease: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO
MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1554111683
rs1554111683 		1.000 5 177516353 frameshift variant -/TT ins
CUI: C4225174
Disease: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO
MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs762890562
rs762890562 		0.925 0.040 5 177515944 stop gained -/CATC delins 8.7E-05 7.0E-05
CUI: C4225174
Disease: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO
MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs762890562
rs762890562 		0.925 0.040 5 177515944 stop gained -/CATC delins 8.7E-05 7.0E-05
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 0
dbSNP: rs774698335
rs774698335 		1.000 5 177513767 missense variant C/A;T snv 2.8E-05 6.3E-05
CUI: C4225174
Disease: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO
MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs869320762
rs869320762 		1.000 5 177515822 splice acceptor variant CT/TG mnv
CUI: C4225174
Disease: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO
MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs869312828
rs869312828 		0.807 0.080 5 177512369 missense variant C/T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.020 1.000 2 2016 2017
dbSNP: rs869312828
rs869312828 		0.807 0.080 5 177512369 missense variant C/T snv
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs869312828
rs869312828 		0.807 0.080 5 177512369 missense variant C/T snv
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs869312828
rs869312828 		0.807 0.080 5 177512369 missense variant C/T snv
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs869312828
rs869312828 		0.807 0.080 5 177512369 missense variant C/T snv
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs869312828
rs869312828 		0.807 0.080 5 177512369 missense variant C/T snv
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017