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rs398122888

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122888(A;A)
Make rs398122888(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position72572052
GeneHDAC8
is asnp
is mentioned by
dbSNPrs398122888
ebirs398122888
HLIrs398122888
Exacrs398122888
Varsomers398122888
Maprs398122888
PheGenIrs398122888
hapmaprs398122888
1000 genomesrs398122888
hgdprs398122888
ensemblrs398122888
gopubmedrs398122888
geneviewrs398122888
scholarrs398122888
googlers398122888
pharmgkbrs398122888
gwascentralrs398122888
openSNPrs398122888
23andMers398122888
23andMe allrs398122888
SNP Nexus

SNPshotrs398122888
SNPdbers398122888
MSV3drs398122888
GWAS Ctlgrs398122888
Max Magnitude0
ClinVar
Risk rs398122888(A;A)
Alt rs398122888(A;A)
Reference rs398122888(G;G)
Significance Pathogenic
Disease Cornelia de Lange syndrome 5
Variation info
Gene HDAC8
CLNDBN Cornelia de Lange syndrome 5
Reversed 1
HGVS NC_000023.10:g.71791902C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030813.12,