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: rs3731217
rs3731217
CDKN2A
0.763 0.320 9 21984662 intron variant A/C;T snv
CUI: C0023485
Disease: Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 		0.700 1.000 2 2013 2018
dbSNP: rs3731217
rs3731217
CDKN2A
0.763 0.320 9 21984662 intron variant A/C;T snv
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.050 1.000 5 2010 2018
dbSNP: rs3731217
rs3731217
CDKN2A
0.763 0.320 9 21984662 intron variant A/C;T snv
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.030 1.000 3 2010 2018
dbSNP: rs3731217
rs3731217
CDKN2A
0.763 0.320 9 21984662 intron variant A/C;T snv
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.020 1.000 2 2017 2018
dbSNP: rs3731217
rs3731217
CDKN2A
0.763 0.320 9 21984662 intron variant A/C;T snv
CUI: C0280313
Disease: Squamous cell carcinoma of oropharynx
Squamous cell carcinoma of oropharynx 		0.010 1.000 1 2014 2014
dbSNP: rs3731217
rs3731217
CDKN2A
0.763 0.320 9 21984662 intron variant A/C;T snv
CUI: C2678061
Disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT 		0.010 1.000 1 2011 2011
dbSNP: rs3731217
rs3731217
CDKN2A
0.763 0.320 9 21984662 intron variant A/C;T snv
CUI: C2697636
Disease: Hyperdiploid B Acute Lymphoblastic Leukemia
Hyperdiploid B Acute Lymphoblastic Leukemia 		0.010 1.000 1 2015 2015
dbSNP: rs3731217
rs3731217
CDKN2A
0.763 0.320 9 21984662 intron variant A/C;T snv
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs3731217
rs3731217
CDKN2A
0.763 0.320 9 21984662 intron variant A/C;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2014 2014
dbSNP: rs3731217
rs3731217
CDKN2A
0.763 0.320 9 21984662 intron variant A/C;T snv
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.010 1.000 1 2010 2010