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rs201135624

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201135624(A;A)
Make rs201135624(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position6558671
GeneGLDC
is asnp
is mentioned by
dbSNPrs201135624
dbSNP (classic)rs201135624
ClinGenrs201135624
ebirs201135624
HLIrs201135624
Exacrs201135624
Gnomadrs201135624
Varsomers201135624
LitVarrs201135624
Maprs201135624
PheGenIrs201135624
Biobankrs201135624
1000 genomesrs201135624
hgdprs201135624
ensemblrs201135624
geneviewrs201135624
scholarrs201135624
googlers201135624
pharmgkbrs201135624
gwascentralrs201135624
openSNPrs201135624
23andMers201135624
SNPshotrs201135624
SNPdbers201135624
MSV3drs201135624
GWAS Ctlgrs201135624
Max Magnitude0
ClinVar
Risk rs201135624(A;A)
Alt rs201135624(A;A)
Reference Rs201135624(G;G)
Significance Pathogenic
Disease Non-ketotic hyperglycinemia Smith-Magenis Syndrome-like
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia Smith-Magenis Syndrome-like
Reversed 0
HGVS NC_000009.11:g.6558671G>A
CLNSRC
CLNACC RCV000284142.1, RCV000491317.1,