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rs587776884

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs587776884(-;-)
Make rs587776884(-;TA)
Make rs587776884(TA;TA)
ReferenceGRCh38 38.1/142
Chromosome18
Position22993635
GeneRBBP8
is asnp
is mentioned by
dbSNPrs587776884
ebirs587776884
HLIrs587776884
Exacrs587776884
Varsomers587776884
Maprs587776884
PheGenIrs587776884
hapmaprs587776884
1000 genomesrs587776884
hgdprs587776884
ensemblrs587776884
gopubmedrs587776884
geneviewrs587776884
scholarrs587776884
googlers587776884
pharmgkbrs587776884
gwascentralrs587776884
openSNPrs587776884
23andMers587776884
23andMe allrs587776884
SNP Nexus

SNPshotrs587776884
SNPdbers587776884
MSV3drs587776884
GWAS Ctlgrs587776884
Max Magnitude0
ClinVar
Risk rs587776884(;)
Alt rs587776884(;)
Reference rs587776884(AT;AT)
Significance Pathogenic
Disease Microcephaly with mental retardation and digital anomalies
Variation info
Gene RBBP8
CLNDBN Microcephaly with mental retardation and digital anomalies
Reversed 0
HGVS NC_000018.9:g.20573598_20573599delTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000023362.4,