CALHM1, calcium homeostasis modulator 1, 255022

N. diseases: 16; N. variants: 8
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: rs2986017
rs2986017 		0.851 0.120 10 103458495 missense variant A/G snv 0.79 0.80
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.100 0.941 17 2008 2016
dbSNP: rs386747134
rs386747134 		0.882 0.120 10 103458495 missense variant AGC/GGT mnv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.100 0.933 15 2008 2016
dbSNP: rs760832624
rs760832624 		0.882 0.120 10 103458488 frameshift variant CAGCGGCC/- delins
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.100 0.933 15 2008 2016
dbSNP: rs2986017
rs2986017 		0.851 0.120 10 103458495 missense variant A/G snv 0.79 0.80
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.050 0.800 5 2009 2010
dbSNP: rs386747134
rs386747134 		0.882 0.120 10 103458495 missense variant AGC/GGT mnv
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.030 0.667 3 2009 2010
dbSNP: rs760832624
rs760832624 		0.882 0.120 10 103458488 frameshift variant CAGCGGCC/- delins
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.030 0.667 3 2009 2010
dbSNP: rs11191692
rs11191692 		1.000 0.040 10 103454008 3 prime UTR variant G/A snv 0.29
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2986017
rs2986017 		0.851 0.120 10 103458495 missense variant A/G snv 0.79 0.80
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2986017
rs2986017 		0.851 0.120 10 103458495 missense variant A/G snv 0.79 0.80
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		Nervous System Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs2986017
rs2986017 		0.851 0.120 10 103458495 missense variant A/G snv 0.79 0.80
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs2986017
rs2986017 		0.851 0.120 10 103458495 missense variant A/G snv 0.79 0.80
CUI: C0009460
Disease: Communication impairment
Communication impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs2986018
rs2986018 		1.000 0.120 10 103458602 synonymous variant T/C snv 0.81 0.83
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs386747134
rs386747134 		0.882 0.120 10 103458495 missense variant AGC/GGT mnv
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs41287500
rs41287500 		1.000 0.120 10 103455334 missense variant C/A;T snv 2.0E-05; 1.6E-02
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs41287502
rs41287502 		1.000 0.120 10 103455459 missense variant C/A snv 1.6E-02 1.7E-02
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs4918016
rs4918016 		1.000 0.120 10 103458497 synonymous variant C/A;T snv 0.34
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs760832624
rs760832624 		0.882 0.120 10 103458488 frameshift variant CAGCGGCC/- delins
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2013 2013