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rs587777054

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777054(A;A)
Make rs587777054(A;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position56351496
GeneGNAO1
is asnp
is mentioned by
dbSNPrs587777054
ebirs587777054
HLIrs587777054
Exacrs587777054
Varsomers587777054
Maprs587777054
PheGenIrs587777054
hapmaprs587777054
1000 genomesrs587777054
hgdprs587777054
ensemblrs587777054
gopubmedrs587777054
geneviewrs587777054
scholarrs587777054
googlers587777054
pharmgkbrs587777054
gwascentralrs587777054
openSNPrs587777054
23andMers587777054
23andMe allrs587777054
SNP Nexus

SNPshotrs587777054
SNPdbers587777054
MSV3drs587777054
GWAS Ctlgrs587777054
Max Magnitude0
ClinVar
Risk rs587777054(A;A)
Alt rs587777054(A;A)
Reference rs587777054(T;T)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 17
Variation info
Gene GNAO1
CLNDBN Early infantile epileptic encephalopathy 17
Reversed 0
HGVS NC_000016.9:g.56385408T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000056405.27,