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rs587776887

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587776887(-;-)
Make rs587776887(-;CAATGTTCAGC)
Make rs587776887(CAATGTTCAGC;CAATGTTCAGC)
ReferenceGRCh38 38.1/142
Chromosome11
Position95827825
GeneCEP57
is asnp
is mentioned by
dbSNPrs587776887
ebirs587776887
HLIrs587776887
Exacrs587776887
Varsomers587776887
Maprs587776887
PheGenIrs587776887
hapmaprs587776887
1000 genomesrs587776887
hgdprs587776887
ensemblrs587776887
gopubmedrs587776887
geneviewrs587776887
scholarrs587776887
googlers587776887
pharmgkbrs587776887
gwascentralrs587776887
openSNPrs587776887
23andMers587776887
23andMe allrs587776887
SNP Nexus

SNPshotrs587776887
SNPdbers587776887
MSV3drs587776887
GWAS Ctlgrs587776887
Max Magnitude0
ClinVar
Risk rs587776887(AGCCAATGTTC;AGCCAATGTTC)
Alt rs587776887(AGCCAATGTTC;AGCCAATGTTC)
Reference rs587776887(;)
Significance Pathogenic
Disease Mosaic variegated aneuploidy syndrome 2
Variation info
Gene CEP57
CLNDBN Mosaic variegated aneuploidy syndrome 2
Reversed 0
HGVS NC_000011.9:g.95560979_95560989dupCAATGTTCAGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000023669.3,