Have questions? Visit https://www.reddit.com/r/SNPedia

rs1060503481

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(AAAAA;AAAAA) 0 common in clinvar
Make rs1060503481(-;-)
Make rs1060503481(-;AAAAA)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position89953438
GeneNBN
is asnp
is mentioned by
dbSNPrs1060503481
dbSNP (old)rs1060503481
ClinGenrs1060503481
ebirs1060503481
HLIrs1060503481
Exacrs1060503481
Gnomadrs1060503481
Varsomers1060503481
Maprs1060503481
PheGenIrs1060503481
Biobankrs1060503481
1000 genomesrs1060503481
hgdprs1060503481
ensemblrs1060503481
gopubmedrs1060503481
geneviewrs1060503481
scholarrs1060503481
googlers1060503481
pharmgkbrs1060503481
gwascentralrs1060503481
openSNPrs1060503481
23andMers1060503481
23andMe allrs1060503481
SNPshotrs1060503481
SNPdbers1060503481
MSV3drs1060503481
GWAS Ctlgrs1060503481
Max Magnitude0
ClinVar
Risk rs1060503481(-;-)
Alt rs1060503481(-;-)
Reference Rs1060503481(AAAAA;AAAAA)
Significance Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90965666_90965670delTTTTT
CLNSRC
CLNACC RCV000458733.1,