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rs1057519588

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519588(A;A)
Make rs1057519588(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position89955555
GeneNBN
is asnp
is mentioned by
dbSNPrs1057519588
dbSNP (old)rs1057519588
ClinGenrs1057519588
ebirs1057519588
HLIrs1057519588
Exacrs1057519588
Gnomadrs1057519588
Varsomers1057519588
LitVarrs1057519588
Maprs1057519588
PheGenIrs1057519588
Biobankrs1057519588
1000 genomesrs1057519588
hgdprs1057519588
ensemblrs1057519588
gopubmedrs1057519588
geneviewrs1057519588
scholarrs1057519588
googlers1057519588
pharmgkbrs1057519588
gwascentralrs1057519588
openSNPrs1057519588
23andMers1057519588
23andMe allrs1057519588
SNPshotrs1057519588
SNPdbers1057519588
MSV3drs1057519588
GWAS Ctlgrs1057519588
Max Magnitude0
ClinVar
Risk rs1057519588(A;A)
Alt rs1057519588(A;A)
Reference Rs1057519588(G;G)
Significance Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90967783C>T
CLNSRC
CLNACC RCV000417077.1,