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rs80338739

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTT;CTT) 0 common in clinvar
(TTC;TTC) 0 common in clinvar
Make rs80338739(-;-)
Make rs80338739(-;CTT)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153690433
GeneSLC6A8
is asnp
is mentioned by
dbSNPrs80338739
ebirs80338739
HLIrs80338739
Exacrs80338739
Varsomers80338739
Maprs80338739
PheGenIrs80338739
hapmaprs80338739
1000 genomesrs80338739
hgdprs80338739
ensemblrs80338739
gopubmedrs80338739
geneviewrs80338739
scholarrs80338739
googlers80338739
pharmgkbrs80338739
gwascentralrs80338739
openSNPrs80338739
23andMers80338739
23andMe allrs80338739
SNP Nexus

SNPshotrs80338739
SNPdbers80338739
MSV3drs80338739
GWAS Ctlgrs80338739
Max Magnitude0
ClinVar
Risk rs80338739(;)
Alt rs80338739(;)
Reference rs80338739(TTC;TTC)
Significance Pathogenic
Disease Creatine deficiency
Variation info
Gene SLC6A8
CLNDBN Creatine deficiency, X-linked
Reversed 0
HGVS NC_000023.10:g.152955888_152955890delCTT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020635.1,


[PMID 17465020] Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.