AAAS, aladin WD repeat nucleoporin, 8086

N. diseases: 92; N. variants: 23
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: rs1339688889
rs1339688889 		12 53315733 missense variant C/T snv
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		Hemic and Lymphatic Diseases 0.010 1.000 1 2002 2002
dbSNP: rs773970701
rs773970701 		12 53309229 missense variant C/A;T snv
CUI: C0027066
Disease: Myoclonus
Myoclonus 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs121918549
rs121918549 		0.882 0.080 12 53321423 stop gained G/A;T snv 4.0E-06; 1.8E-04
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		Digestive System Diseases; Endocrine System Diseases 0.810 1.000 7 2001 2012
dbSNP: rs121918550
rs121918550 		1.000 0.080 12 53309624 missense variant A/G snv 1.2E-04 4.9E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 6 1980 2015
dbSNP: rs121918548
rs121918548 		1.000 0.080 12 53307698 stop gained G/A snv 4.0E-05 7.7E-05
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		Digestive System Diseases; Endocrine System Diseases 0.720 1.000 2 2004 2018
dbSNP: rs121918550
rs121918550 		1.000 0.080 12 53309624 missense variant A/G snv 1.2E-04 4.9E-05
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		Digestive System Diseases; Endocrine System Diseases 0.810 1.000 2 2001 2008
dbSNP: rs750775106
rs750775106 		1.000 0.080 12 53314407 stop gained G/A snv 2.0E-05
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		Digestive System Diseases; Endocrine System Diseases 0.020 1.000 2 2004 2006
dbSNP: rs770214071
rs770214071 		1.000 0.080 12 53308469 frameshift variant CAGA/- delins 2.8E-05 7.7E-05
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		Digestive System Diseases; Endocrine System Diseases 0.700 1.000 2 2002 2012
dbSNP: rs145446970
rs145446970 		1.000 0.080 12 53309236 stop gained G/A snv 4.4E-05 2.1E-05
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		Digestive System Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs149146781
rs149146781 		0.925 0.080 12 53314757 missense variant G/A;T snv 4.0E-06
CUI: C0751690
Disease: Malignant Peripheral Nerve Sheath Tumor
Malignant Peripheral Nerve Sheath Tumor 		Neoplasms; Nervous System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs149146781
rs149146781 		0.925 0.080 12 53314757 missense variant G/A;T snv 4.0E-06
CUI: C0206729
Disease: Neurofibrosarcoma
Neurofibrosarcoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs201891426
rs201891426 		1.000 0.080 12 53314310 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C3805092
Disease: Methylenetetrahydrofolate reductase gene mutation
Methylenetetrahydrofolate reductase gene mutation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2000 2000
dbSNP: rs754078574
rs754078574 		1.000 0.080 12 53315379 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		Digestive System Diseases; Endocrine System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs765613977
rs765613977 		0.882 0.080 12 53321465 start lost T/C snv 4.0E-06 7.0E-06
CUI: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia 		Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs765613977
rs765613977 		0.882 0.080 12 53321465 start lost T/C snv 4.0E-06 7.0E-06
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		Digestive System Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs765613977
rs765613977 		0.882 0.080 12 53321465 start lost T/C snv 4.0E-06 7.0E-06
CUI: C1321756
Disease: Achalasia
Achalasia 		0.010 1.000 1 2018 2018
dbSNP: rs768784941
rs768784941 		0.925 0.080 12 53314352 missense variant G/A;C snv 4.0E-06
CUI: C0751690
Disease: Malignant Peripheral Nerve Sheath Tumor
Malignant Peripheral Nerve Sheath Tumor 		Neoplasms; Nervous System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs768784941
rs768784941 		0.925 0.080 12 53314352 missense variant G/A;C snv 4.0E-06
CUI: C0206729
Disease: Neurofibrosarcoma
Neurofibrosarcoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs773601814
rs773601814 		1.000 0.080 12 53309018 missense variant A/G;T snv 4.0E-06
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		Digestive System Diseases; Endocrine System Diseases 0.700 1.000 1 2003 2003
dbSNP: rs1035139364
rs1035139364 		1.000 0.080 12 53308724 splice donor variant C/T snv 7.0E-06
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		Digestive System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121918547
rs121918547 		1.000 0.080 12 53309158 stop gained G/A;C snv 1.6E-05; 4.0E-06; 4.0E-06
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		Digestive System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121918549
rs121918549 		0.882 0.080 12 53321423 stop gained G/A;T snv 4.0E-06; 1.8E-04
CUI: C4012597
Disease: ALACRIMA, CONGENITAL, AUTOSOMAL RECESSIVE
ALACRIMA, CONGENITAL, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs121918549
rs121918549 		0.882 0.080 12 53321423 stop gained G/A;T snv 4.0E-06; 1.8E-04
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs121918549
rs121918549 		0.882 0.080 12 53321423 stop gained G/A;T snv 4.0E-06; 1.8E-04
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		0.700 0
dbSNP: rs121918549
rs121918549 		0.882 0.080 12 53321423 stop gained G/A;T snv 4.0E-06; 1.8E-04
CUI: C4551650
Disease: Esophageal Stricture
Esophageal Stricture 		Digestive System Diseases 0.700 0