GRM1, glutamate metabotropic receptor 1, 2911

N. diseases: 39; N. variants: 7
Disease: SPINOCEREBELLAR ATAXIA 44 ×
Source: CURATED ×
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: rs1554274719
rs1554274719 		1.000 6 146159432 missense variant A/G snv
CUI: C4521563
Disease: SPINOCEREBELLAR ATAXIA 44
SPINOCEREBELLAR ATAXIA 44 		0.800 1.000 1 2017 2017
dbSNP: rs1554308513
rs1554308513 		1.000 6 146399414 missense variant A/G snv
CUI: C4521563
Disease: SPINOCEREBELLAR ATAXIA 44
SPINOCEREBELLAR ATAXIA 44 		0.800 1.000 1 2017 2017
dbSNP: rs1554317158
rs1554317158 		1.000 6 146434372 frameshift variant -/C delins
CUI: C4521563
Disease: SPINOCEREBELLAR ATAXIA 44
SPINOCEREBELLAR ATAXIA 44 		0.700 0