Have questions? Visit https://www.reddit.com/r/SNPedia

rs869320682

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869320682(C;T)
Make rs869320682(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position120560544
GeneCUL4B
is asnp
is mentioned by
dbSNPrs869320682
dbSNP (classic)rs869320682
ClinGenrs869320682
ebirs869320682
HLIrs869320682
Exacrs869320682
Gnomadrs869320682
Varsomers869320682
LitVarrs869320682
Maprs869320682
PheGenIrs869320682
Biobankrs869320682
1000 genomesrs869320682
hgdprs869320682
ensemblrs869320682
geneviewrs869320682
scholarrs869320682
googlers869320682
pharmgkbrs869320682
gwascentralrs869320682
openSNPrs869320682
23andMers869320682
SNPshotrs869320682
SNPdbers869320682
MSV3drs869320682
GWAS Ctlgrs869320682
Max Magnitude0
ClinVar
Risk rs869320682(T;T)
Alt rs869320682(T;T)
Reference Rs869320682(C;C)
Significance Pathogenic
Disease Syndromic X-linked mental retardation
Variation info
Gene CUL4B
CLNDBN Syndromic X-linked mental retardation, Cabezas type
Reversed 1
HGVS NC_000023.10:g.119694399G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000190825.3,