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rs1057518727

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518727(A;G)
Make rs1057518727(G;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position72495179
GeneHDAC8
is asnp
is mentioned by
dbSNPrs1057518727
dbSNP (old)rs1057518727
ClinGenrs1057518727
ebirs1057518727
HLIrs1057518727
Exacrs1057518727
Gnomadrs1057518727
Varsomers1057518727
LitVarrs1057518727
Maprs1057518727
PheGenIrs1057518727
Biobankrs1057518727
1000 genomesrs1057518727
hgdprs1057518727
ensemblrs1057518727
gopubmedrs1057518727
geneviewrs1057518727
scholarrs1057518727
googlers1057518727
pharmgkbrs1057518727
gwascentralrs1057518727
openSNPrs1057518727
23andMers1057518727
23andMe allrs1057518727
SNPshotrs1057518727
SNPdbers1057518727
MSV3drs1057518727
GWAS Ctlgrs1057518727
Max Magnitude0
ClinVar
Risk rs1057518727(G;G)
Alt rs1057518727(G;G)
Reference Rs1057518727(A;A)
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.71715029T>C
CLNSRC
CLNACC RCV000415301.1,