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rs587779766

From SNPedia

Orientationminus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs587779766(-;-)
Make rs587779766(-;TG)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position27549742
GeneAHDC1
is asnp
is mentioned by
dbSNPrs587779766
ebirs587779766
HLIrs587779766
Exacrs587779766
Varsomers587779766
Maprs587779766
PheGenIrs587779766
hapmaprs587779766
1000 genomesrs587779766
hgdprs587779766
ensemblrs587779766
gopubmedrs587779766
geneviewrs587779766
scholarrs587779766
googlers587779766
pharmgkbrs587779766
gwascentralrs587779766
openSNPrs587779766
23andMers587779766
23andMe allrs587779766
SNP Nexus

SNPshotrs587779766
SNPdbers587779766
MSV3drs587779766
GWAS Ctlgrs587779766
Max Magnitude0
ClinVar
Risk rs587779766(;)
Alt rs587779766(;)
Reference rs587779766(TG;TG)
Significance Pathogenic
Disease Xia-Gibbs syndrome Delayed speech and language development Global developmental delay Intellectual disability Neonatal hypotonia Sleep apnea not provided Muscular hypotonia
Variation info
Gene AHDC1
CLNDBN Xia-Gibbs syndrome Delayed speech and language development Global developmental delay Intellectual disability Neonatal hypotonia Sleep apnea not provided Muscular hypotonia
Reversed 1
HGVS NC_000001.10:g.27876253_27876254delCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000119838.2, RCV000144167.1, RCV000190364.2, RCV000235041.1,