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rs1057516037

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(CTCCA;CTCCA) 0 common in clinvar
Make rs1057516037(CTCCA;GT)
Make rs1057516037(GT;GT)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position72464626
GeneHDAC8
is asnp
is mentioned by
dbSNPrs1057516037
dbSNP (old)rs1057516037
ClinGenrs1057516037
ebirs1057516037
HLIrs1057516037
Exacrs1057516037
Gnomadrs1057516037
Varsomers1057516037
Maprs1057516037
PheGenIrs1057516037
Biobankrs1057516037
1000 genomesrs1057516037
hgdprs1057516037
ensemblrs1057516037
gopubmedrs1057516037
geneviewrs1057516037
scholarrs1057516037
googlers1057516037
pharmgkbrs1057516037
gwascentralrs1057516037
openSNPrs1057516037
23andMers1057516037
23andMe allrs1057516037
SNPshotrs1057516037
SNPdbers1057516037
MSV3drs1057516037
GWAS Ctlgrs1057516037
Max Magnitude0
ClinVar
Risk rs1057516037(GT;GT)
Alt rs1057516037(GT;GT)
Reference Rs1057516037(CTCCA;CTCCA)
Significance Probable-Pathogenic
Disease Cornelia de Lange syndrome 5
Variation info
Gene HDAC8
CLNDBN Cornelia de Lange syndrome 5
Reversed 1
HGVS NC_000023.10:g.71684476_71684480delTGGAGinsAC
CLNSRC
CLNACC RCV000408608.1,