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rs1060503466

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TGAA;TGAA) 0 common in clinvar
Make rs1060503466(-;-)
Make rs1060503466(-;TGAA)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position89947881
GeneNBN
is asnp
is mentioned by
dbSNPrs1060503466
dbSNP (old)rs1060503466
ClinGenrs1060503466
ebirs1060503466
HLIrs1060503466
Exacrs1060503466
Gnomadrs1060503466
Varsomers1060503466
Maprs1060503466
PheGenIrs1060503466
Biobankrs1060503466
1000 genomesrs1060503466
hgdprs1060503466
ensemblrs1060503466
gopubmedrs1060503466
geneviewrs1060503466
scholarrs1060503466
googlers1060503466
pharmgkbrs1060503466
gwascentralrs1060503466
openSNPrs1060503466
23andMers1060503466
23andMe allrs1060503466
SNPshotrs1060503466
SNPdbers1060503466
MSV3drs1060503466
GWAS Ctlgrs1060503466
Max Magnitude0
ClinVar
Risk rs1060503466(-;-)
Alt rs1060503466(-;-)
Reference Rs1060503466(TGAA;TGAA)
Significance Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90960109_90960112delTTCA
CLNSRC
CLNACC RCV000475546.1,