GLRA1, glycine receptor alpha 1, 2741

N. diseases: 75; N. variants: 32
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: rs281864919
rs281864919 		1.000 0.120 5 151822764 missense variant C/T snv 4.8E-05
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 17 1993 2015
dbSNP: rs121918408
rs121918408 		1.000 0.120 5 151851406 missense variant C/A;T snv
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 16 1993 2017
dbSNP: rs121918410
rs121918410 		1.000 0.120 5 151829060 missense variant T/C;G snv 4.0E-06
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 15 1993 2015
dbSNP: rs199547699
rs199547699 		1.000 0.120 5 151859984 missense variant G/A;T snv 1.2E-05; 4.0E-06
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 14 1993 2015
dbSNP: rs121918409
rs121918409 		1.000 0.120 5 151851487 missense variant A/T snv
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 13 1993 2015
dbSNP: rs121918411
rs121918411 		1.000 0.120 5 151851420 missense variant C/A;G snv
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 13 1993 2015
dbSNP: rs121918412
rs121918412 		1.000 0.120 5 151851392 missense variant T/C snv
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 13 1993 2015
dbSNP: rs121918413
rs121918413 		1.000 0.120 5 151851470 missense variant G/T snv
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 13 1993 2015
dbSNP: rs121918413
rs121918413 		1.000 0.120 5 151851470 missense variant G/T snv
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		Nervous System Diseases 0.730 1.000 3 1999 2004
dbSNP: rs1467252662
rs1467252662 		5 151851530 missense variant G/T snv 4.0E-06
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		Nervous System Diseases 0.030 1.000 3 1999 2004
dbSNP: rs202247813
rs202247813 		1.000 0.160 5 151855144 missense variant C/G snv
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		Nervous System Diseases 0.030 1.000 3 2012 2016
dbSNP: rs121918408
rs121918408 		1.000 0.120 5 151851406 missense variant C/A;T snv
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		Nervous System Diseases 0.720 1.000 2 1995 2006
dbSNP: rs121918410
rs121918410 		1.000 0.120 5 151829060 missense variant T/C;G snv 4.0E-06
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		Nervous System Diseases 0.710 1.000 1 2002 2002
dbSNP: rs121918412
rs121918412 		1.000 0.120 5 151851392 missense variant T/C snv
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		Nervous System Diseases 0.710 1.000 1 1996 1996
dbSNP: rs121918413
rs121918413 		1.000 0.120 5 151851470 missense variant G/T snv
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs121918416
rs121918416 		0.882 0.160 5 151851440 missense variant C/T snv
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		Nervous System Diseases 0.710 1.000 1 2016 2016
dbSNP: rs121918416
rs121918416 		0.882 0.160 5 151851440 missense variant C/T snv
CUI: C1835614
Disease: Hereditary Hyperexplexia
Hereditary Hyperexplexia 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs121918416
rs121918416 		0.882 0.160 5 151851440 missense variant C/T snv
CUI: C4084968
Disease: Hereditary Hyperekplexia
Hereditary Hyperekplexia 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs121918417
rs121918417 		1.000 0.120 5 151851525 missense variant G/C snv
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		Nervous System Diseases 0.710 1.000 1 2002 2002
dbSNP: rs1467252662
rs1467252662 		5 151851530 missense variant G/T snv 4.0E-06
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs202247813
rs202247813 		1.000 0.160 5 151855144 missense variant C/G snv
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2012 2012
dbSNP: rs267606848
rs267606848 		1.000 0.120 5 151851418 missense variant C/T snv
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs281864919
rs281864919 		1.000 0.120 5 151822764 missense variant C/T snv 4.8E-05
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs281864920
rs281864920 		5 151851410 missense variant A/C;T snv
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		Nervous System Diseases 0.710 1.000 1 2003 2003
dbSNP: rs281864921
rs281864921 		1.000 0.120 5 151829059 frameshift variant A/- del
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2004 2004