Have questions? Visit https://www.reddit.com/r/SNPedia

rs886041936

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
ChromosomeX
Position72495210
GeneHDAC8
is asnp
is mentioned by
dbSNPrs886041936
dbSNP (classic)rs886041936
ClinGenrs886041936
ebirs886041936
HLIrs886041936
Exacrs886041936
Gnomadrs886041936
Varsomers886041936
LitVarrs886041936
Maprs886041936
PheGenIrs886041936
Biobankrs886041936
1000 genomesrs886041936
hgdprs886041936
ensemblrs886041936
geneviewrs886041936
scholarrs886041936
googlers886041936
pharmgkbrs886041936
gwascentralrs886041936
openSNPrs886041936
23andMers886041936
SNPshotrs886041936
SNPdbers886041936
MSV3drs886041936
GWAS Ctlgrs886041936
Max Magnitude0
ClinVar
Risk rs886041936(T;T)
Alt rs886041936(T;T)
Reference Rs886041936(C;C)
Significance Pathogenic
Disease not provided Abnormal facial shape Delayed speech and language development Global developmental delay Intrauterine growth retardation Microcephaly Sparse scalp hair
Variation info
Gene HDAC8
CLNDBN not provided Abnormal facial shape Delayed speech and language development Global developmental delay Intrauterine growth retardation Microcephaly Sparse scalp hair
Reversed 1
HGVS NC_000023.10:g.71715060G>A
CLNSRC
CLNACC RCV000302320.1, RCV000415456.1,