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: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
Acral Lentiginous Malignant Melanoma
0.020 1.000 2 2015 2015
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0001206
Disease: Acromegaly
Acromegaly
0.010 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1306214
Disease: ACTH-Secreting Pituitary Adenoma
ACTH-Secreting Pituitary Adenoma
0.010 1.000 1 2018 2018
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0267026
Disease: Actinic cheilitis
Actinic cheilitis
0.010 < 0.001 1 2015 2015
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0022602
Disease: Actinic keratosis
Actinic keratosis
0.010 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.010 1.000 1 2012 2012
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0431129
Disease: Adamantinous Craniopharyngioma
Adamantinous Craniopharyngioma
0.050 1.000 5 2016 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0085281
Disease: Addictive Behavior
Addictive Behavior
0.010 1.000 1 2013 2013
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 1.000 20 2006 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon
0.030 1.000 3 2009 2016
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
0.020 1.000 2 2013 2018
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.800 1.000 14 2008 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
0.010 1.000 1 2008 2008
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
Adenocarcinoma of the gastroesophageal junction
0.010 1.000 1 2015 2015
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1569637
Disease: Adenocarcinoma, Endometrioid
Adenocarcinoma, Endometrioid
0.010 1.000 1 2013 2013
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 1.000 12 2005 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0345964
Disease: Adenoma of lung
Adenoma of lung
0.010 1.000 1 2013 2013
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0206674
Disease: Adenoma, Villous
Adenoma, Villous
0.010 1.000 1 2008 2008
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0311361
Disease: Adenomatous goiter
Adenomatous goiter
0.010 1.000 1 2015 2015
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.010 < 0.001 1 2007 2007
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0001546
Disease: Adjustment Disorders
Adjustment Disorders
0.010 1.000 1 2017 2017
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma
0.010 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
Adult Anaplastic Large Cell Lymphoma
0.010 1.000 1 2019 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0278875
Disease: Adult Craniopharyngioma
Adult Craniopharyngioma
0.010 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1332200
Disease: Adult Diffuse Astrocytoma
Adult Diffuse Astrocytoma
0.010 1.000 1 2016 2016