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rs121918345

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918345(C;G)
Make rs121918345(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position170818626
GeneGAD1
is asnp
is mentioned by
dbSNPrs121918345
ebirs121918345
HLIrs121918345
Exacrs121918345
Varsomers121918345
Maprs121918345
PheGenIrs121918345
hapmaprs121918345
1000 genomesrs121918345
hgdprs121918345
ensemblrs121918345
gopubmedrs121918345
geneviewrs121918345
scholarrs121918345
googlers121918345
pharmgkbrs121918345
gwascentralrs121918345
openSNPrs121918345
23andMers121918345
23andMe allrs121918345
SNP Nexus

SNPshotrs121918345
SNPdbers121918345
MSV3drs121918345
GWAS Ctlgrs121918345
Max Magnitude0
OMIM605363
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918345(G;G)
Alt rs121918345(G;G)
Reference rs121918345(C;C)
Significance Pathogenic
Disease Cerebral palsy
Variation info
Gene GAD1
CLNDBN Cerebral palsy, spastic quadriplegic, 1
Reversed 0
HGVS NC_000002.11:g.171675136C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005363.3,