rs80338740

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common genotype
(TTC;TTC)	0	common in clinvar

Make rs80338740(-;-)

Make rs80338740(-;TTC)

Reference

GRCh38 38.1/141

Chromosome

X

Position

153693985

Gene

SLC6A8

is a	snp
is	mentioned by
dbSNP	rs80338740
dbSNP (classic)	rs80338740
ClinGen	rs80338740
ebi	rs80338740
HLI	rs80338740
Exac	rs80338740
Gnomad	rs80338740
Varsome	rs80338740
LitVar	rs80338740
Map	rs80338740
PheGenI	rs80338740
Biobank	rs80338740
1000 genomes	rs80338740
hgdp	rs80338740
ensembl	rs80338740
geneview	rs80338740
scholar	rs80338740
google	rs80338740
pharmgkb	rs80338740
gwascentral	rs80338740
openSNP	rs80338740
23andMe	rs80338740
SNPshot	rs80338740
SNPdbe	rs80338740
MSV3d	rs80338740
GWAS Ctlg	rs80338740

Max Magnitude

0

OMIM	300036
Desc
Variant	0003
Related	also

ClinVar
Risk	rs80338740(-;-)
Alt	rs80338740(-;-)
Reference	Rs80338740(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.152959440_152959442delTTC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012464.17, RCV000483506.1,

[PMID 12210795] X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.