rs121434616

Orientation

minus

Stabilized

minus

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

Make rs121434616(C;T)

Make rs121434616(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

120544179

Gene

CUL4B

is a	snp
is	mentioned by
dbSNP	rs121434616
dbSNP (classic)	rs121434616
ClinGen	rs121434616
ebi	rs121434616
HLI	rs121434616
Exac	rs121434616
Gnomad	rs121434616
Varsome	rs121434616
LitVar	rs121434616
Map	rs121434616
PheGenI	rs121434616
Biobank	rs121434616
1000 genomes	rs121434616
hgdp	rs121434616
ensembl	rs121434616
geneview	rs121434616
scholar	rs121434616
google	rs121434616
pharmgkb	rs121434616
gwascentral	rs121434616
openSNP	rs121434616
23andMe	rs121434616
SNPshot	rs121434616
SNPdbe	rs121434616
MSV3d	rs121434616
GWAS Ctlg	rs121434616

Max Magnitude

0

OMIM	300304
Desc
Variant	0002
Related	also

OMIM	300304
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121434616(T;T)
Alt	rs121434616(T;T)
Reference	Rs121434616(C;C)
Significance	Pathogenic
Disease	Syndromic X-linked mental retardation Abnormal facial shape Global developmental delay Intellectual disability Seizures Short stature
Variation	info
Gene	CUL4B
CLNDBN	Syndromic X-linked mental retardation, Cabezas type Abnormal facial shape Global developmental delay Intellectual disability Seizures Short stature
Reversed	1
HGVS	NC_000023.10:g.119678034G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012092.13, RCV000415116.1,