GLRA1, glycine receptor alpha 1, 2741

N. diseases: 75; N. variants: 32
Disease: Hyperexplexia ×
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: 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: 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: rs121918415
rs121918415 		1.000 0.120 5 151855047 stop gained G/A;T snv
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		Nervous System Diseases 0.700 0
dbSNP: rs281864916
rs281864916 		5 151851565 missense variant C/A;T snv 4.0E-06; 8.0E-06
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		Nervous System Diseases 0.700 0
dbSNP: rs281864917
rs281864917 		5 151851501 missense variant C/G snv
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		Nervous System Diseases 0.700 0
dbSNP: rs281864921
rs281864921 		1.000 0.120 5 151829059 frameshift variant A/- del
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		Nervous System Diseases 0.700 0
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: rs200130685
rs200130685 		5 151822698 missense variant C/T snv 6.4E-05 5.6E-05
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		Nervous System Diseases 0.010 1.000 1 2016 2016
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: rs281864914
rs281864914 		5 151859962 missense variant C/T snv 8.0E-06; 8.0E-06 7.0E-06
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		Nervous System Diseases 0.010 1.000 1 2005 2005
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