GLRB, glycine receptor beta, 2743

N. diseases: 39; N. variants: 8
Disease: HYPEREKPLEXIA 2 ×
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: rs121909749
rs121909749 		1.000 4 157143807 missense variant G/A snv
CUI: C3553291
Disease: HYPEREKPLEXIA 2
HYPEREKPLEXIA 2 		0.800 1.000 3 2002 2013
dbSNP: rs398122856
rs398122856 		1.000 4 157136872 missense variant T/G snv
CUI: C3553291
Disease: HYPEREKPLEXIA 2
HYPEREKPLEXIA 2 		0.800 1.000 3 2002 2013
dbSNP: rs1415892964
rs1415892964 		1.000 4 157120554 splice acceptor variant A/G snv
CUI: C3553291
Disease: HYPEREKPLEXIA 2
HYPEREKPLEXIA 2 		0.700 1.000 1 2013 2013
dbSNP: rs1560962569
rs1560962569 		1.000 4 157136613 frameshift variant -/A delins
CUI: C3553291
Disease: HYPEREKPLEXIA 2
HYPEREKPLEXIA 2 		0.700 0
dbSNP: rs1560962636
rs1560962636 		1.000 4 157136641 frameshift variant C/- delins
CUI: C3553291
Disease: HYPEREKPLEXIA 2
HYPEREKPLEXIA 2 		0.700 0
dbSNP: rs281864922
rs281864922 		1.000 4 157136891 splice region variant G/A snv 4.8E-05 3.5E-05
CUI: C3553291
Disease: HYPEREKPLEXIA 2
HYPEREKPLEXIA 2 		0.700 0