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rs1057519004

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519004(A;A)
Make rs1057519004(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position13611833
GeneGRIN2B, LOC105369668
is asnp
is mentioned by
dbSNPrs1057519004
dbSNP (old)rs1057519004
ClinGenrs1057519004
ebirs1057519004
HLIrs1057519004
Exacrs1057519004
Gnomadrs1057519004
Varsomers1057519004
Maprs1057519004
PheGenIrs1057519004
Biobankrs1057519004
1000 genomesrs1057519004
hgdprs1057519004
ensemblrs1057519004
gopubmedrs1057519004
geneviewrs1057519004
scholarrs1057519004
googlers1057519004
pharmgkbrs1057519004
gwascentralrs1057519004
openSNPrs1057519004
23andMers1057519004
23andMe allrs1057519004
SNPshotrs1057519004
SNPdbers1057519004
MSV3drs1057519004
GWAS Ctlgrs1057519004
Max Magnitude0
ClinVar
Risk rs1057519004(A;A)
Alt rs1057519004(A;A)
Reference Rs1057519004(G;G)
Significance Probable-Pathogenic
Disease intellectual deficiency
Variation info
Gene GRIN2B
CLNDBN intellectual deficiency
Reversed 1
HGVS NC_000012.11:g.13764767C>T
CLNSRC
CLNACC RCV000414971.1,