rs121918527

Orientation

minus

Stabilized

minus

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

Make rs121918527(C;T)

Make rs121918527(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

53535474

Gene

HUWE1

is a	snp
is	mentioned by
dbSNP	rs121918527
dbSNP (classic)	rs121918527
ClinGen	rs121918527
ebi	rs121918527
HLI	rs121918527
Exac	rs121918527
Gnomad	rs121918527
Varsome	rs121918527
LitVar	rs121918527
Map	rs121918527
PheGenI	rs121918527
Biobank	rs121918527
1000 genomes	rs121918527
hgdp	rs121918527
ensembl	rs121918527
geneview	rs121918527
scholar	rs121918527
google	rs121918527
pharmgkb	rs121918527
gwascentral	rs121918527
openSNP	rs121918527
23andMe	rs121918527
SNPshot	rs121918527
SNPdbe	rs121918527
MSV3d	rs121918527
GWAS Ctlg	rs121918527

Max Magnitude

0

OMIM	300697
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121918527(T;T)
Alt	rs121918527(T;T)
Reference	Rs121918527(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.53562435G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011424.6,