rs80338739

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CTT;CTT)	0	common in clinvar
(TTC;TTC)	0	common in clinvar

Make rs80338739(-;-)

Make rs80338739(-;CTT)

Reference

GRCh38 38.1/141

Chromosome

X

Position

153690433

Gene

SLC6A8

is a	snp
is	mentioned by
dbSNP	rs80338739
dbSNP (classic)	rs80338739
ClinGen	rs80338739
ebi	rs80338739
HLI	rs80338739
Exac	rs80338739
Gnomad	rs80338739
Varsome	rs80338739
LitVar	rs80338739
Map	rs80338739
PheGenI	rs80338739
Biobank	rs80338739
1000 genomes	rs80338739
hgdp	rs80338739
ensembl	rs80338739
geneview	rs80338739
scholar	rs80338739
google	rs80338739
pharmgkb	rs80338739
gwascentral	rs80338739
openSNP	rs80338739
23andMe	rs80338739
SNPshot	rs80338739
SNPdbe	rs80338739
MSV3d	rs80338739
GWAS Ctlg	rs80338739

Max Magnitude

0

ClinVar
Risk	rs80338739(-;-)
Alt	rs80338739(-;-)
Reference	Rs80338739(TTC;TTC)
Significance	Pathogenic
Disease	Creatine deficiency not provided
Variation	info
Gene	SLC6A8
CLNDBN	Creatine deficiency, X-linked not provided
Reversed	0
HGVS	NC_000023.10:g.152955888_152955890delCTT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020635.1, RCV000479265.1,

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