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rs1057519315

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(AAGTC;AAGTC) 0 common in clinvar
Make rs1057519315(-;-)
Make rs1057519315(-;AAGTC)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position44002863
GeneSLC6A9
is asnp
is mentioned by
dbSNPrs1057519315
dbSNP (old)rs1057519315
ClinGenrs1057519315
ebirs1057519315
HLIrs1057519315
Exacrs1057519315
Gnomadrs1057519315
Varsomers1057519315
Maprs1057519315
PheGenIrs1057519315
Biobankrs1057519315
1000 genomesrs1057519315
hgdprs1057519315
ensemblrs1057519315
gopubmedrs1057519315
geneviewrs1057519315
scholarrs1057519315
googlers1057519315
pharmgkbrs1057519315
gwascentralrs1057519315
openSNPrs1057519315
23andMers1057519315
23andMe allrs1057519315
SNPshotrs1057519315
SNPdbers1057519315
MSV3drs1057519315
GWAS Ctlgrs1057519315
Max Magnitude0
ClinVar
Risk rs1057519315(-;-)
Alt rs1057519315(-;-)
Reference Rs1057519315(AAGTC;AAGTC)
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.44468535_44468539delGACTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000415630.1,