rs122453113

Orientation

plus

Stabilized

plus

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

Make rs122453113(C;T)

Make rs122453113(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

153694577

Gene

SLC6A8

is a	snp
is	mentioned by
dbSNP	rs122453113
dbSNP (classic)	rs122453113
ClinGen	rs122453113
ebi	rs122453113
HLI	rs122453113
Exac	rs122453113
Gnomad	rs122453113
Varsome	rs122453113
LitVar	rs122453113
Map	rs122453113
PheGenI	rs122453113
Biobank	rs122453113
1000 genomes	rs122453113
hgdp	rs122453113
ensembl	rs122453113
geneview	rs122453113
scholar	rs122453113
google	rs122453113
pharmgkb	rs122453113
gwascentral	rs122453113
openSNP	rs122453113
23andMe	rs122453113
SNPshot	rs122453113
SNPdbe	rs122453113
MSV3d	rs122453113
GWAS Ctlg	rs122453113

Max Magnitude

0

OMIM	300036
Desc
Variant	0001
Related	also

ClinVar
Risk	rs122453113(T;T)
Alt	rs122453113(T;T)
Reference	Rs122453113(C;C)
Significance	Pathogenic
Disease	Creatine deficiency
Variation	info
Gene	SLC6A8
CLNDBN	Creatine deficiency, X-linked
Reversed	0
HGVS	NC_000023.10:g.152960032C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012462.25,