AAAS, aladin WD repeat nucleoporin, 8086

N. diseases: 92; N. variants: 23
Disease: Glucocorticoid deficiency with achalasia ×
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: 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: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		Digestive System Diseases; Endocrine System Diseases 0.810 1.000 2 2001 2008
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: 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: 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: rs121918551
rs121918551 		0.882 0.200 12 53308095 missense variant G/A snv 4.0E-06
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		Digestive System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1297831120
rs1297831120 		1.000 0.080 12 53314817 missense variant T/C snv
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		Digestive System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs150511103
rs150511103 		1.000 0.080 12 53308051 splice donor variant C/A;G;T snv 4.0E-06; 4.0E-06; 4.8E-05
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		Digestive System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1565781382
rs1565781382 		1.000 0.080 12 53315142 splice acceptor variant T/C snv
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		Digestive System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs387906326
rs387906326 		1.000 0.080 12 53308975 frameshift variant -/A delins
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		Digestive System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs754637718
rs754637718 		1.000 0.080 12 53320565 stop gained C/T snv 4.4E-05 2.8E-05
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		Digestive System Diseases; Endocrine System Diseases 0.700 0
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: 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: 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: rs758440592
rs758440592 		0.882 0.120 12 53314832 missense variant C/T snv 2.0E-05 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 2019 2019
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