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: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
0.010 1.000 1 2002 2002
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
0.010 1.000 1 2002 2002
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.020 1.000 2 2000 2003
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.010 1.000 1 2004 2004
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.010 1.000 1 2004 2004
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
Secondary malignant neoplasm of liver
0.010 1.000 1 2004 2004
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0037054
Disease: Sickle Cell Trait
Sickle Cell Trait
0.010 1.000 1 2004 2004
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0497327
Disease: Dementia
Dementia
0.010 1.000 1 2004 2004
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0270736
Disease: Essential Tremor
Essential Tremor
0.010 1.000 1 2004 2004
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0282666
Disease: Very Low Birth Weight
Very Low Birth Weight
0.010 1.000 1 2004 2004
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 1.000 1 2004 2004
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C1260403
Disease: prothrombin gene mutation
prothrombin gene mutation
0.010 1.000 1 2005 2005
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0085083
Disease: Ovarian Hyperstimulation Syndrome
Ovarian Hyperstimulation Syndrome
0.010 1.000 1 2005 2005
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0085183
Disease: Neoplasms, Second Primary
Neoplasms, Second Primary
0.010 1.000 1 2005 2005
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.010 1.000 1 2005 2005
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0221165
Disease: Diplegia
Diplegia
0.010 1.000 1 2005 2005
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis
0.030 0.667 3 2002 2006
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.020 1.000 2 2005 2006
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0023418
Disease: leukemia
leukemia
0.020 1.000 2 2001 2006
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome
0.010 1.000 1 2006 2006
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0342342
Disease: Idiopathic Hypoparathyroidism
Idiopathic Hypoparathyroidism
0.010 1.000 1 2006 2006
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
Diabetes Mellitus, Insulin-Dependent
0.010 1.000 1 2006 2006
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome
0.010 1.000 1 2006 2006
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0221505
Disease: Lesion of brain
Lesion of brain
0.010 1.000 1 2006 2006
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases
0.040 1.000 4 1999 2007