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rs1057518988

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518988(A;G)
Make rs1057518988(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position13571859
GeneGRIN2B
is asnp
is mentioned by
dbSNPrs1057518988
dbSNP (old)rs1057518988
ClinGenrs1057518988
ebirs1057518988
HLIrs1057518988
Exacrs1057518988
Gnomadrs1057518988
Varsomers1057518988
LitVarrs1057518988
Maprs1057518988
PheGenIrs1057518988
Biobankrs1057518988
1000 genomesrs1057518988
hgdprs1057518988
ensemblrs1057518988
gopubmedrs1057518988
geneviewrs1057518988
scholarrs1057518988
googlers1057518988
pharmgkbrs1057518988
gwascentralrs1057518988
openSNPrs1057518988
23andMers1057518988
23andMe allrs1057518988
SNPshotrs1057518988
SNPdbers1057518988
MSV3drs1057518988
GWAS Ctlgrs1057518988
Max Magnitude0
ClinVar
Risk rs1057518988(G;G)
Alt rs1057518988(G;G)
Reference Rs1057518988(A;A)
Significance Probable-Pathogenic
Disease Ataxia Seizure Disorders intellectual deficiency
Variation info
Gene GRIN2B
CLNDBN Ataxia Seizure Disorders intellectual deficiency
Reversed 1
HGVS NC_000012.11:g.13724793T>C
CLNSRC
CLNACC RCV000414945.1,