rs1057518704

Orientation

minus

Stabilized

minus

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

Make rs1057518704(A;A)

Make rs1057518704(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

53595328

Gene

HUWE1

is a	snp
is	mentioned by
dbSNP	rs1057518704
dbSNP (classic)	rs1057518704
ClinGen	rs1057518704
ebi	rs1057518704
HLI	rs1057518704
Exac	rs1057518704
Gnomad	rs1057518704
Varsome	rs1057518704
LitVar	rs1057518704
Map	rs1057518704
PheGenI	rs1057518704
Biobank	rs1057518704
1000 genomes	rs1057518704
hgdp	rs1057518704
ensembl	rs1057518704
geneview	rs1057518704
scholar	rs1057518704
google	rs1057518704
pharmgkb	rs1057518704
gwascentral	rs1057518704
openSNP	rs1057518704
23andMe	rs1057518704
SNPshot	rs1057518704
SNPdbe	rs1057518704
MSV3d	rs1057518704
GWAS Ctlg	rs1057518704

Max Magnitude

0

ClinVar
Risk	rs1057518704(A;A)
Alt	rs1057518704(A;A)
Reference	Rs1057518704(G;G)
Significance	Probable-Pathogenic
Disease	Mental retardation
Variation	info
Gene	HUWE1
CLNDBN	Mental retardation, X-linked, syndromic, turner type
Reversed	1
HGVS	NC_000023.10:g.53622288C>T
CLNSRC
CLNACC	RCV000415182.1,