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rs786200913

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786200913(A;G)
Make rs786200913(G;G)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position120545519
GeneCUL4B
is asnp
is mentioned by
dbSNPrs786200913
ClinGenrs786200913
ebirs786200913
HLIrs786200913
Exacrs786200913
Varsomers786200913
Maprs786200913
PheGenIrs786200913
hapmaprs786200913
1000 genomesrs786200913
hgdprs786200913
ensemblrs786200913
gopubmedrs786200913
geneviewrs786200913
scholarrs786200913
googlers786200913
pharmgkbrs786200913
gwascentralrs786200913
openSNPrs786200913
23andMers786200913
23andMe allrs786200913
SNP Nexus

SNPshotrs786200913
SNPdbers786200913
MSV3drs786200913
GWAS Ctlgrs786200913
Max Magnitude0
ClinVar
Risk rs786200913(G;G)
Alt rs786200913(G;G)
Reference Rs786200913(A;A)
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.119679374T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012093.13,