GLRA1, glycine receptor alpha 1, 2741

N. diseases: 75; N. variants: 32
Disease: HYPEREKPLEXIA 1 ×
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: rs281864918
rs281864918 		1.000 0.120 5 151851463 missense variant C/T snv 2.4E-05 7.0E-06
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 13 1993 2015
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
dbSNP: rs1181626947
rs1181626947 		1.000 0.120 5 151822777 missense variant C/T snv 4.0E-06
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121918414
rs121918414 		1.000 0.120 5 151856337 missense variant T/C snv 4.0E-06 1.4E-05
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121918415
rs121918415 		1.000 0.120 5 151855047 stop gained G/A;T snv
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121918416
rs121918416 		0.882 0.160 5 151851440 missense variant C/T snv
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121918417
rs121918417 		1.000 0.120 5 151851525 missense variant G/C snv
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121918418
rs121918418 		1.000 0.120 5 151829009 stop gained G/T snv 1.4E-05
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554083576
rs1554083576 		1.000 0.120 5 151851443 missense variant T/C snv
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554085893
rs1554085893 		1.000 0.120 5 151886719 splice donor variant A/G snv
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs267606848
rs267606848 		1.000 0.120 5 151851418 missense variant C/T snv
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs281864913
rs281864913 		1.000 0.120 5 151828950 stop gained G/A snv 4.8E-05 2.1E-05
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs281864915
rs281864915 		1.000 0.120 5 151859963 frameshift variant G/- delins 2.8E-05
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs751659671
rs751659671 		1.000 0.120 5 151851566 missense variant G/A snv 1.6E-05
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs762864856
rs762864856 		0.925 0.200 5 151856384 splice acceptor variant C/G;T snv 8.0E-06
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0