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: 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: 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: 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: 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: 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: 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: rs773970701
rs773970701
AAAS
12 53309229 missense variant C/A;T snv
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.010 1.000 1 2014 2014
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
dbSNP: rs758440592
rs758440592
AAAS
0.882 0.120 12 53314832 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.010 1.000 1 2019 2019
dbSNP: rs758440592
rs758440592
AAAS
0.882 0.120 12 53314832 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		0.010 1.000 1 2019 2019
dbSNP: rs758440592
rs758440592
AAAS
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 		0.010 1.000 1 2019 2019
dbSNP: rs758440592
rs758440592
AAAS
0.882 0.120 12 53314832 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C1145628
Disease: Autonomic nervous system disorders
Autonomic nervous system disorders 		0.010 1.000 1 2019 2019
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: 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: 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: 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: 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: rs145446970
rs145446970
AAAS
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 		0.010 1.000 1 2018 2018
dbSNP: rs201891426
rs201891426
AAAS
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 		0.010 1.000 1 2000 2000
dbSNP: rs754078574
rs754078574
AAAS
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 		0.010 1.000 1 2004 2004
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