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: rs121918549
rs121918549
AAAS
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 		0.810 1.000 7 2001 2012
dbSNP: rs121918550
rs121918550
AAAS
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 		0.810 1.000 2 2001 2008
dbSNP: rs121918548
rs121918548
AAAS
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 		0.720 1.000 2 2004 2018
dbSNP: rs121918550
rs121918550
AAAS
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 		0.700 1.000 6 1980 2015
dbSNP: rs770214071
rs770214071
AAAS
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 		0.700 1.000 2 2002 2012
dbSNP: rs773601814
rs773601814
AAAS
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 		0.700 1.000 1 2003 2003
dbSNP: rs1035139364
rs1035139364
AAAS
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 		0.700 0
dbSNP: rs121918547
rs121918547
AAAS
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 		0.700 0
dbSNP: rs121918549
rs121918549
AAAS
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
AAAS
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 		0.700 0
dbSNP: rs121918549
rs121918549
AAAS
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
AAAS
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 		0.700 0
dbSNP: rs121918550
rs121918550
AAAS
1.000 0.080 12 53309624 missense variant A/G snv 1.2E-04 4.9E-05
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.700 0
dbSNP: rs121918550
rs121918550
AAAS
1.000 0.080 12 53309624 missense variant A/G snv 1.2E-04 4.9E-05
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.700 0
dbSNP: rs121918550
rs121918550
AAAS
1.000 0.080 12 53309624 missense variant A/G snv 1.2E-04 4.9E-05
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.700 0
dbSNP: rs121918551
rs121918551
AAAS
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 		0.700 0
dbSNP: rs1297831120
rs1297831120
AAAS
1.000 0.080 12 53314817 missense variant T/C snv
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.700 0
dbSNP: rs150511103
rs150511103
AAAS
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 		0.700 0
dbSNP: rs1565781382
rs1565781382
AAAS
1.000 0.080 12 53315142 splice acceptor variant T/C snv
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.700 0
dbSNP: rs387906326
rs387906326
AAAS
1.000 0.080 12 53308975 frameshift variant -/A delins
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.700 0
dbSNP: rs754637718
rs754637718
AAAS
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 		0.700 0
dbSNP: rs750775106
rs750775106
AAAS
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 		0.020 1.000 2 2004 2006
dbSNP: rs121918551
rs121918551
AAAS
0.882 0.200 12 53308095 missense variant G/A snv 4.0E-06
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		0.010 1.000 1 2008 2008
dbSNP: rs121918551
rs121918551
AAAS
0.882 0.200 12 53308095 missense variant G/A snv 4.0E-06
CUI: C0344505
Disease: Alacrima
Alacrima 		0.010 1.000 1 2008 2008
dbSNP: rs1339688889
rs1339688889
AAAS
12 53315733 missense variant C/T snv
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.010 1.000 1 2002 2002