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rs587780100

From SNPedia

Orientationminus
Geno Mag Summary
(AACA;AACA) 0 common in clinvar
Make rs587780100(-;-)
Make rs587780100(-;AACA)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position89971174
GeneNBN
is asnp
is mentioned by
dbSNPrs587780100
ebirs587780100
HLIrs587780100
Exacrs587780100
Varsomers587780100
Maprs587780100
PheGenIrs587780100
hapmaprs587780100
1000 genomesrs587780100
hgdprs587780100
ensemblrs587780100
gopubmedrs587780100
geneviewrs587780100
scholarrs587780100
googlers587780100
pharmgkbrs587780100
gwascentralrs587780100
openSNPrs587780100
23andMers587780100
23andMe allrs587780100
SNP Nexus

SNPshotrs587780100
SNPdbers587780100
MSV3drs587780100
GWAS Ctlgrs587780100
Max Magnitude0
ClinVar
Risk rs587780100(;)
Alt rs587780100(;)
Reference rs587780100(AACA;AACA)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Microcephaly not provided
Variation info
Gene NBN
CLNDBN Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not provided
Reversed 1
HGVS NC_000008.10:g.90983402_90983405delTGTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000115804.4, RCV000193543.4, RCV000212735.1,