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rs1057519314

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519314(C;T)
Make rs1057519314(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position44000805
GeneSLC6A9
is asnp
is mentioned by
dbSNPrs1057519314
dbSNP (old)rs1057519314
ClinGenrs1057519314
ebirs1057519314
HLIrs1057519314
Exacrs1057519314
Gnomadrs1057519314
Varsomers1057519314
Maprs1057519314
PheGenIrs1057519314
Biobankrs1057519314
1000 genomesrs1057519314
hgdprs1057519314
ensemblrs1057519314
gopubmedrs1057519314
geneviewrs1057519314
scholarrs1057519314
googlers1057519314
pharmgkbrs1057519314
gwascentralrs1057519314
openSNPrs1057519314
23andMers1057519314
23andMe allrs1057519314
SNPshotrs1057519314
SNPdbers1057519314
MSV3drs1057519314
GWAS Ctlgrs1057519314
Max Magnitude0
ClinVar
Risk rs1057519314(T;T)
Alt rs1057519314(T;T)
Reference Rs1057519314(C;C)
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.44466477G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000415706.1,