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rs1060503463

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060503463(G;G)
Make rs1060503463(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position89980831
GeneNBN
is asnp
is mentioned by
dbSNPrs1060503463
dbSNP (old)rs1060503463
ClinGenrs1060503463
ebirs1060503463
HLIrs1060503463
Exacrs1060503463
Gnomadrs1060503463
Varsomers1060503463
Maprs1060503463
PheGenIrs1060503463
Biobankrs1060503463
1000 genomesrs1060503463
hgdprs1060503463
ensemblrs1060503463
gopubmedrs1060503463
geneviewrs1060503463
scholarrs1060503463
googlers1060503463
pharmgkbrs1060503463
gwascentralrs1060503463
openSNPrs1060503463
23andMers1060503463
23andMe allrs1060503463
SNPshotrs1060503463
SNPdbers1060503463
MSV3drs1060503463
GWAS Ctlgrs1060503463
Max Magnitude0
ClinVar
Risk rs1060503463(G;G)
Alt rs1060503463(G;G)
Reference Rs1060503463(T;T)
Significance Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90993059A>C
CLNSRC
CLNACC RCV000467395.1,