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: 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: 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: 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: 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: 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: rs73794390
rs73794390 		5 151887512 intron variant A/G snv 2.5E-02
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs890832
rs890832 		0.925 0.040 5 151890769 intron variant G/A;C snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs890832
rs890832 		0.925 0.040 5 151890769 intron variant G/A;C snv
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
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: rs121918409
rs121918409 		1.000 0.120 5 151851487 missense variant A/T snv
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		Nervous System Diseases 0.700 0
dbSNP: rs121918411
rs121918411 		1.000 0.120 5 151851420 missense variant C/A;G snv
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		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