rs122454126

Orientation

minus

Stabilized

minus

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

Make rs122454126(G;T)

Make rs122454126(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

20204103

Gene

RPS6KA3

is a	snp
is	mentioned by
dbSNP	rs122454126
dbSNP (classic)	rs122454126
ClinGen	rs122454126
ebi	rs122454126
HLI	rs122454126
Exac	rs122454126
Gnomad	rs122454126
Varsome	rs122454126
LitVar	rs122454126
Map	rs122454126
PheGenI	rs122454126
Biobank	rs122454126
1000 genomes	rs122454126
hgdp	rs122454126
ensembl	rs122454126
geneview	rs122454126
scholar	rs122454126
google	rs122454126
pharmgkb	rs122454126
gwascentral	rs122454126
openSNP	rs122454126
23andMe	rs122454126
SNPshot	rs122454126
SNPdbe	rs122454126
MSV3d	rs122454126
GWAS Ctlg	rs122454126

Max Magnitude

0

OMIM	300075
Desc
Variant	0004
Related	also

ClinVar
Risk	rs122454126(A;A) rs122454126(T;T)
Alt	rs122454126(A;A) rs122454126(T;T)
Reference	Rs122454126(G;G)
Significance	Pathogenic
Disease	Coffin-Lowry syndrome
Variation	info
Gene	RPS6KA3
CLNDBN	Coffin-Lowry syndrome
Reversed	1
HGVS	NC_000023.10:g.20222221C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012419.23,