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rs587783653

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783653(C;C)
Make rs587783653(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position57659568
GeneADGRG1
is asnp
is mentioned by
dbSNPrs587783653
dbSNP (classic)rs587783653
ClinGenrs587783653
ebirs587783653
HLIrs587783653
Exacrs587783653
Gnomadrs587783653
Varsomers587783653
LitVarrs587783653
Maprs587783653
PheGenIrs587783653
Biobankrs587783653
1000 genomesrs587783653
hgdprs587783653
ensemblrs587783653
geneviewrs587783653
scholarrs587783653
googlers587783653
pharmgkbrs587783653
gwascentralrs587783653
openSNPrs587783653
23andMers587783653
SNPshotrs587783653
SNPdbers587783653
MSV3drs587783653
GWAS Ctlgrs587783653
Max Magnitude0
ClinVar
Risk rs587783653(C;C)
Alt rs587783653(C;C)
Reference Rs587783653(T;T)
Significance Pathogenic
Disease Polymicrogyria
Variation info
Gene ADGRG1 GPR56
CLNDBN Polymicrogyria, bilateral frontoparietal
Reversed 0
HGVS NC_000016.9:g.57693480T>C
CLNSRC
CLNACC RCV000146039.1,