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rs121908466

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of a bilateral frontoparietal polymicrogyria mutation
Make rs121908466(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position57651398
GeneADGRG1
is asnp
is mentioned by
dbSNPrs121908466
dbSNP (classic)rs121908466
ClinGenrs121908466
ebirs121908466
HLIrs121908466
Exacrs121908466
Gnomadrs121908466
Varsomers121908466
LitVarrs121908466
Maprs121908466
PheGenIrs121908466
Biobankrs121908466
1000 genomesrs121908466
hgdprs121908466
ensemblrs121908466
geneviewrs121908466
scholarrs121908466
googlers121908466
pharmgkbrs121908466
gwascentralrs121908466
openSNPrs121908466
23andMers121908466
SNPshotrs121908466
SNPdbers121908466
MSV3drs121908466
GWAS Ctlgrs121908466
Max Magnitude3
OMIM604110
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908466(G;G)
Alt rs121908466(G;G)
Reference Rs121908466(A;A)
Significance Pathogenic
Disease Polymicrogyria
Variation info
Gene ADGRG1 GPR56
CLNDBN Polymicrogyria, bilateral frontoparietal
Reversed 0
HGVS NC_000016.9:g.57685310A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006189.4,