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rs587779767

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587779767(-;-)
Make rs587779767(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position27549218
GeneAHDC1
is asnp
is mentioned by
dbSNPrs587779767
ebirs587779767
HLIrs587779767
Exacrs587779767
Varsomers587779767
Maprs587779767
PheGenIrs587779767
hapmaprs587779767
1000 genomesrs587779767
hgdprs587779767
ensemblrs587779767
gopubmedrs587779767
geneviewrs587779767
scholarrs587779767
googlers587779767
pharmgkbrs587779767
gwascentralrs587779767
openSNPrs587779767
23andMers587779767
23andMe allrs587779767
SNP Nexus

SNPshotrs587779767
SNPdbers587779767
MSV3drs587779767
GWAS Ctlgrs587779767
Max Magnitude0
ClinVar
Risk rs587779767(;)
Alt rs587779767(;)
Reference rs587779767(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.27875729delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000119839.2, RCV000144168.1, RCV000235067.1,