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: rs2290547
rs2290547
SETD2
3 47019693 intron variant G/A;C snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 2 2013 2017
dbSNP: rs869025570
rs869025570
SETD2
1.000 3 47084336 missense variant A/C snv
CUI: C4085873
Disease: LUSCAN-LUMISH SYNDROME
LUSCAN-LUMISH SYNDROME 		0.800 0
dbSNP: rs1553699115
rs1553699115
SETD2
1.000 3 47116749 splice acceptor variant TTCT/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 2012 2017
dbSNP: rs540476365
rs540476365
SETD2
1.000 0.120 3 47121125 missense variant T/C snv
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.700 1.000 2 2014 2014
dbSNP: rs754921650
rs754921650
SETD2
1.000 0.040 3 47120446 missense variant T/C snv 1.2E-05 2.1E-05
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 2 2005 2014
dbSNP: rs780963440
rs780963440
SETD2
1.000 0.120 3 47123960 missense variant G/A;C snv 5.0E-05; 1.3E-05
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.700 1.000 2 2014 2014
dbSNP: rs114151323
rs114151323
SETD2
3 47142565 intron variant C/T snv 1.2E-02
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs13063578
rs13063578
SETD2
3 47046347 intron variant T/A snv 0.46
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs13063578
rs13063578
SETD2
3 47046347 intron variant T/A snv 0.46
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs13063578
rs13063578
SETD2
3 47046347 intron variant T/A snv 0.46
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs13063578
rs13063578
SETD2
3 47046347 intron variant T/A snv 0.46
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs13063578
rs13063578
SETD2
3 47046347 intron variant T/A snv 0.46
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs17784127
rs17784127
SETD2
3 47020210 intron variant T/C snv 0.35
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs2290547
rs2290547
SETD2
3 47019693 intron variant G/A;C snv
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2013 2013
dbSNP: rs543811905
rs543811905
SETD2
3 47029484 intron variant AA/-;A;AAA;AAAA;AAAAA delins
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs62246406
rs62246406
SETD2
3 47056495 intron variant G/A snv 0.14
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1057523157
rs1057523157
SETD2
0.925 0.120 3 47088172 missense variant G/A snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 0
dbSNP: rs1057523157
rs1057523157
SETD2
0.925 0.120 3 47088172 missense variant G/A snv
CUI: C4085873
Disease: LUSCAN-LUMISH SYNDROME
LUSCAN-LUMISH SYNDROME 		0.700 0
dbSNP: rs1057523157
rs1057523157
SETD2
0.925 0.120 3 47088172 missense variant G/A snv
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.700 0
dbSNP: rs1169288572
rs1169288572
SETD2
1.000 0.040 3 47122237 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 0
dbSNP: rs1478147351
rs1478147351
SETD2
1.000 0.120 3 47101485 missense variant G/A snv 7.0E-06
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.700 0
dbSNP: rs1559720382
rs1559720382
SETD2
1.000 3 47101476 missense variant T/C snv
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		0.700 0
dbSNP: rs1559720382
rs1559720382
SETD2
1.000 3 47101476 missense variant T/C snv
CUI: C4085873
Disease: LUSCAN-LUMISH SYNDROME
LUSCAN-LUMISH SYNDROME 		0.700 0
dbSNP: rs186148199
rs186148199
SETD2
1.000 0.120 3 47123837 missense variant C/T snv 8.9E-05 3.5E-05
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.700 0
dbSNP: rs188887061
rs188887061
SETD2
1.000 0.120 3 47122353 missense variant C/T snv 4.2E-04 7.0E-05
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.700 0