rs121918525

Orientation

minus

Stabilized

minus

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

Make rs121918525(C;T)

Make rs121918525(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

53537656

Gene

HUWE1

is a	snp
is	mentioned by
dbSNP	rs121918525
dbSNP (classic)	rs121918525
ClinGen	rs121918525
ebi	rs121918525
HLI	rs121918525
Exac	rs121918525
Gnomad	rs121918525
Varsome	rs121918525
LitVar	rs121918525
Map	rs121918525
PheGenI	rs121918525
Biobank	rs121918525
1000 genomes	rs121918525
hgdp	rs121918525
ensembl	rs121918525
geneview	rs121918525
scholar	rs121918525
google	rs121918525
pharmgkb	rs121918525
gwascentral	rs121918525
openSNP	rs121918525
23andMe	rs121918525
SNPshot	rs121918525
SNPdbe	rs121918525
MSV3d	rs121918525
GWAS Ctlg	rs121918525

Max Magnitude

0

OMIM	300697
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121918525(T;T)
Alt	rs121918525(T;T)
Reference	Rs121918525(C;C)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	HUWE1
CLNDBN	Mental retardation, X-linked, syndromic, turner type
Reversed	1
HGVS	NC_000023.10:g.53564617G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011422.6,