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rs1057519313

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519313(A;G)
Make rs1057519313(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position44001590
GeneSLC6A9
is asnp
is mentioned by
dbSNPrs1057519313
dbSNP (old)rs1057519313
ClinGenrs1057519313
ebirs1057519313
HLIrs1057519313
Exacrs1057519313
Gnomadrs1057519313
Varsomers1057519313
LitVarrs1057519313
Maprs1057519313
PheGenIrs1057519313
Biobankrs1057519313
1000 genomesrs1057519313
hgdprs1057519313
ensemblrs1057519313
gopubmedrs1057519313
geneviewrs1057519313
scholarrs1057519313
googlers1057519313
pharmgkbrs1057519313
gwascentralrs1057519313
openSNPrs1057519313
23andMers1057519313
23andMe allrs1057519313
SNPshotrs1057519313
SNPdbers1057519313
MSV3drs1057519313
GWAS Ctlgrs1057519313
Max Magnitude0
ClinVar
Risk rs1057519313(G;G)
Alt rs1057519313(G;G)
Reference Rs1057519313(A;A)
Significance Pathogenic
Disease Glycine encephalopathy with normal serum glycine
Variation info
Gene SLC6A9
CLNDBN Glycine encephalopathy with normal serum glycine
Reversed 1
HGVS NC_000001.10:g.44467262T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000415674.1,