rs122453118

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs122453118(C;G)

Make rs122453118(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

153694424

Gene

SLC6A8

is a	snp
is	mentioned by
dbSNP	rs122453118
dbSNP (classic)	rs122453118
ClinGen	rs122453118
ebi	rs122453118
HLI	rs122453118
Exac	rs122453118
Gnomad	rs122453118
Varsome	rs122453118
LitVar	rs122453118
Map	rs122453118
PheGenI	rs122453118
Biobank	rs122453118
1000 genomes	rs122453118
hgdp	rs122453118
ensembl	rs122453118
geneview	rs122453118
scholar	rs122453118
google	rs122453118
pharmgkb	rs122453118
gwascentral	rs122453118
openSNP	rs122453118
23andMe	rs122453118
SNPshot	rs122453118
SNPdbe	rs122453118
MSV3d	rs122453118
GWAS Ctlg	rs122453118

Max Magnitude

0

OMIM	300036
Desc
Variant	0009
Related	also

ClinVar
Risk	rs122453118(G;G) rs122453118(T;T)
Alt	rs122453118(G;G) rs122453118(T;T)
Reference	Rs122453118(C;C)
Significance	Pathogenic
Disease	Creatine deficiency
Variation	info
Gene	SLC6A8
CLNDBN	Creatine deficiency, X-linked
Reversed	0
HGVS	NC_000023.10:g.152959879C>G; NC_000023.10:g.152959879C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012470.25, RCV000476483.1,