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rs121908465

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 3 Carrier of a bilateral frontoparietal polymicrogyria mutation
(G;G) 0 common in clinvar


Make rs121908465(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position57651407
GeneADGRG1
is asnp
is mentioned by
dbSNPrs121908465
dbSNP (classic)rs121908465
ClinGenrs121908465
ebirs121908465
HLIrs121908465
Exacrs121908465
Gnomadrs121908465
Varsomers121908465
LitVarrs121908465
Maprs121908465
PheGenIrs121908465
Biobankrs121908465
1000 genomesrs121908465
hgdprs121908465
ensemblrs121908465
geneviewrs121908465
scholarrs121908465
googlers121908465
pharmgkbrs121908465
gwascentralrs121908465
openSNPrs121908465
23andMers121908465
SNPshotrs121908465
SNPdbers121908465
MSV3drs121908465
GWAS Ctlgrs121908465
Max Magnitude3
OMIM604110
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908465(C;C)
Alt rs121908465(C;C)
Reference Rs121908465(G;G)
Significance Pathogenic
Disease Polymicrogyria not provided
Variation info
Gene ADGRG1 GPR56
CLNDBN Polymicrogyria, bilateral frontoparietal not provided
Reversed 0
HGVS NC_000016.9:g.57685319G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006188.4, RCV000308240.1,