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rs797044862

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044862(A;A)
Make rs797044862(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position120538659
GeneCUL4B
is asnp
is mentioned by
dbSNPrs797044862
dbSNP (classic)rs797044862
ClinGenrs797044862
ebirs797044862
HLIrs797044862
Exacrs797044862
Gnomadrs797044862
Varsomers797044862
LitVarrs797044862
Maprs797044862
PheGenIrs797044862
Biobankrs797044862
1000 genomesrs797044862
hgdprs797044862
ensemblrs797044862
geneviewrs797044862
scholarrs797044862
googlers797044862
pharmgkbrs797044862
gwascentralrs797044862
openSNPrs797044862
23andMers797044862
SNPshotrs797044862
SNPdbers797044862
MSV3drs797044862
GWAS Ctlgrs797044862
Max Magnitude0
ClinVar
Risk rs797044862(A;A) rs797044862(T;T)
Alt rs797044862(A;A) rs797044862(T;T)
Reference Rs797044862(G;G)
Significance Pathogenic
Disease Syndromic X-linked mental retardation Inborn genetic diseases
Variation info
Gene CUL4B
CLNDBN Syndromic X-linked mental retardation, Cabezas type Inborn genetic diseases
Reversed 1
HGVS NC_000023.10:g.119672514C>A; NC_000023.10:g.119672514C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000190824.3, RCV000190666.1,