Source: BEFREE

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: rs11191580
rs11191580
NT5C2
0.827 0.040 10 103146454 intron variant T/C snv 7.9E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.820 1.000 2 2011 2017
dbSNP: rs1057519866
rs1057519866
NT5C2
0.851 0.120 10 103093198 missense variant C/T snv
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.020 1.000 2 2016 2018
dbSNP: rs1057519866
rs1057519866
NT5C2
0.851 0.120 10 103093198 missense variant C/T snv
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.010 1.000 1 2015 2015
dbSNP: rs1057519866
rs1057519866
NT5C2
0.851 0.120 10 103093198 missense variant C/T snv
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 1.000 1 2016 2016
dbSNP: rs1057519866
rs1057519866
NT5C2
0.851 0.120 10 103093198 missense variant C/T snv
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2018 2018
dbSNP: rs1057519866
rs1057519866
NT5C2
0.851 0.120 10 103093198 missense variant C/T snv
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2016 2016
dbSNP: rs11191580
rs11191580
NT5C2
0.827 0.040 10 103146454 intron variant T/C snv 7.9E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 1.000 1 2019 2019
dbSNP: rs11598702
rs11598702
NT5C2
10 103138228 intron variant T/C;G snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.010 1.000 1 2017 2017
dbSNP: rs1424098571
rs1424098571
NT5C2
1.000 0.040 10 103093263 synonymous variant G/A snv 4.0E-06
CUI: C3839868
Disease: Cytogenetically normal acute myeloid leukemia
Cytogenetically normal acute myeloid leukemia 		0.010 1.000 1 2013 2013
dbSNP: rs72846714
rs72846714
NT5C2
1.000 0.120 10 103118697 intron variant G/A snv 0.15
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 < 0.001 1 2018 2018