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rs587779768

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587779768(-;-)
Make rs587779768(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position27549569
GeneAHDC1
is asnp
is mentioned by
dbSNPrs587779768
ebirs587779768
HLIrs587779768
Exacrs587779768
Varsomers587779768
Maprs587779768
PheGenIrs587779768
hapmaprs587779768
1000 genomesrs587779768
hgdprs587779768
ensemblrs587779768
gopubmedrs587779768
geneviewrs587779768
scholarrs587779768
googlers587779768
pharmgkbrs587779768
gwascentralrs587779768
openSNPrs587779768
23andMers587779768
23andMe allrs587779768
SNP Nexus

SNPshotrs587779768
SNPdbers587779768
MSV3drs587779768
GWAS Ctlgrs587779768
Max Magnitude0
ClinVar
Risk rs587779768(;)
Alt rs587779768(;)
Reference rs587779768(C;C)
Significance Pathogenic
Disease Xia-Gibbs syndrome Delayed speech and language development Global developmental delay Intellectual disability Neonatal hypotonia Sleep apnea Muscular hypotonia
Variation info
Gene AHDC1
CLNDBN Xia-Gibbs syndrome Delayed speech and language development Global developmental delay Intellectual disability Neonatal hypotonia Sleep apnea Muscular hypotonia
Reversed 1
HGVS NC_000001.10:g.27876080delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000119840.2, RCV000144169.1, RCV000235083.1,