rs122453116

Orientation

plus

Stabilized

plus

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

Make rs122453116(C;G)

Make rs122453116(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

153693361

Gene

SLC6A8

is a	snp
is	mentioned by
dbSNP	rs122453116
dbSNP (classic)	rs122453116
ClinGen	rs122453116
ebi	rs122453116
HLI	rs122453116
Exac	rs122453116
Gnomad	rs122453116
Varsome	rs122453116
LitVar	rs122453116
Map	rs122453116
PheGenI	rs122453116
Biobank	rs122453116
1000 genomes	rs122453116
hgdp	rs122453116
ensembl	rs122453116
geneview	rs122453116
scholar	rs122453116
google	rs122453116
pharmgkb	rs122453116
gwascentral	rs122453116
openSNP	rs122453116
23andMe	rs122453116
SNPshot	rs122453116
SNPdbe	rs122453116
MSV3d	rs122453116
GWAS Ctlg	rs122453116

Max Magnitude

0

OMIM	300036
Desc
Variant	0007
Related	also

ClinVar
Risk	rs122453116(G;G)
Alt	rs122453116(G;G)
Reference	Rs122453116(C;C)
Significance	Pathogenic
Disease	Creatine deficiency
Variation	info
Gene	SLC6A8
CLNDBN	Creatine deficiency, X-linked
Reversed	0
HGVS	NC_000023.10:g.152958816C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012468.17,