rs122468181

Orientation

minus

Stabilized

minus

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

Make rs122468181(C;T)

Make rs122468181(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

119837771

Gene

UPF3B

is a	snp
is	mentioned by
dbSNP	rs122468181
dbSNP (classic)	rs122468181
ClinGen	rs122468181
ebi	rs122468181
HLI	rs122468181
Exac	rs122468181
Gnomad	rs122468181
Varsome	rs122468181
LitVar	rs122468181
Map	rs122468181
PheGenI	rs122468181
Biobank	rs122468181
1000 genomes	rs122468181
hgdp	rs122468181
ensembl	rs122468181
geneview	rs122468181
scholar	rs122468181
google	rs122468181
pharmgkb	rs122468181
gwascentral	rs122468181
openSNP	rs122468181
23andMe	rs122468181
SNPshot	rs122468181
SNPdbe	rs122468181
MSV3d	rs122468181
GWAS Ctlg	rs122468181

Max Magnitude

0

OMIM	300298
Desc
Variant	0003
Related	also

ClinVar
Risk	rs122468181(A;A) rs122468181(T;T)
Alt	rs122468181(A;A) rs122468181(T;T)
Reference	Rs122468181(C;C)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	UPF3B
CLNDBN	Mental retardation, syndromic 14, X-linked
Reversed	1
HGVS	NC_000023.10:g.118971734G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012153.12,