rs122453114

Orientation

plus

Stabilized

plus

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

Make rs122453114(C;C)

Make rs122453114(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

153693586

Gene

SLC6A8

is a	snp
is	mentioned by
dbSNP	rs122453114
dbSNP (classic)	rs122453114
ClinGen	rs122453114
ebi	rs122453114
HLI	rs122453114
Exac	rs122453114
Gnomad	rs122453114
Varsome	rs122453114
LitVar	rs122453114
Map	rs122453114
PheGenI	rs122453114
Biobank	rs122453114
1000 genomes	rs122453114
hgdp	rs122453114
ensembl	rs122453114
geneview	rs122453114
scholar	rs122453114
google	rs122453114
pharmgkb	rs122453114
gwascentral	rs122453114
openSNP	rs122453114
23andMe	rs122453114
SNPshot	rs122453114
SNPdbe	rs122453114
MSV3d	rs122453114
GWAS Ctlg	rs122453114

Max Magnitude

0

OMIM	300036
Desc
Variant	0002
Related	also

ClinVar
Risk	rs122453114(C;C)
Alt	rs122453114(C;C)
Reference	Rs122453114(G;G)
Significance	Pathogenic
Disease	Creatine deficiency
Variation	info
Gene	SLC6A8
CLNDBN	Creatine deficiency, X-linked
Reversed	0
HGVS	NC_000023.10:g.152959041G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012463.23,