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rs1057518800

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518800(A;A)
Make rs1057518800(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position13567228
GeneGRIN2B
is asnp
is mentioned by
dbSNPrs1057518800
dbSNP (old)rs1057518800
ClinGenrs1057518800
ebirs1057518800
HLIrs1057518800
Exacrs1057518800
Gnomadrs1057518800
Varsomers1057518800
Maprs1057518800
PheGenIrs1057518800
Biobankrs1057518800
1000 genomesrs1057518800
hgdprs1057518800
ensemblrs1057518800
gopubmedrs1057518800
geneviewrs1057518800
scholarrs1057518800
googlers1057518800
pharmgkbrs1057518800
gwascentralrs1057518800
openSNPrs1057518800
23andMers1057518800
23andMe allrs1057518800
SNPshotrs1057518800
SNPdbers1057518800
MSV3drs1057518800
GWAS Ctlgrs1057518800
Max Magnitude0
ClinVar
Risk rs1057518800(A;A)
Alt rs1057518800(A;A)
Reference Rs1057518800(G;G)
Significance Probable-Pathogenic
Disease Developmental delay Intellectual disability
Variation info
Gene GRIN2B
CLNDBN Developmental delay Intellectual disability
Reversed 1
HGVS NC_000012.11:g.13720162C>T
CLNSRC
CLNACC RCV000414776.1,