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rs1057519396

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs1057519396(-;-)
Make rs1057519396(-;CA)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position120539326
GeneCUL4B
is asnp
is mentioned by
dbSNPrs1057519396
dbSNP (old)rs1057519396
ClinGenrs1057519396
ebirs1057519396
HLIrs1057519396
Exacrs1057519396
Gnomadrs1057519396
Varsomers1057519396
Maprs1057519396
PheGenIrs1057519396
Biobankrs1057519396
1000 genomesrs1057519396
hgdprs1057519396
ensemblrs1057519396
gopubmedrs1057519396
geneviewrs1057519396
scholarrs1057519396
googlers1057519396
pharmgkbrs1057519396
gwascentralrs1057519396
openSNPrs1057519396
23andMers1057519396
23andMe allrs1057519396
SNPshotrs1057519396
SNPdbers1057519396
MSV3drs1057519396
GWAS Ctlgrs1057519396
Max Magnitude0
ClinVar
Risk rs1057519396(-;-)
Alt rs1057519396(-;-)
Reference Rs1057519396(CA;CA)
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.119673181_119673182delTG
CLNSRC
CLNACC RCV000417055.1,