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: rs2187692
rs2187692 		4 1981829 3 prime UTR variant A/G snv 1.2E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1553873247
rs1553873247 		1.000 0.040 4 1938449 splice region variant GAGA/- delins
CUI: C1956097
Disease: Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs772470710
rs772470710 		0.882 0.120 4 1961074 missense variant G/A snv 4.0E-06
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2013 2019
dbSNP: rs14647
rs14647 		1.000 0.040 4 1982108 3 prime UTR variant G/T snv 1.9E-03
CUI: C1956097
Disease: Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2011 2011
dbSNP: rs772470710
rs772470710 		0.882 0.120 4 1961074 missense variant G/A snv 4.0E-06
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs772470710
rs772470710 		0.882 0.120 4 1961074 missense variant G/A snv 4.0E-06
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2013 2013