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rs1057516320

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516320(C;T)
Make rs1057516320(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position89981430
GeneNBN
is asnp
is mentioned by
dbSNPrs1057516320
dbSNP (old)rs1057516320
ClinGenrs1057516320
ebirs1057516320
HLIrs1057516320
Exacrs1057516320
Gnomadrs1057516320
Varsomers1057516320
LitVarrs1057516320
Maprs1057516320
PheGenIrs1057516320
Biobankrs1057516320
1000 genomesrs1057516320
hgdprs1057516320
ensemblrs1057516320
gopubmedrs1057516320
geneviewrs1057516320
scholarrs1057516320
googlers1057516320
pharmgkbrs1057516320
gwascentralrs1057516320
openSNPrs1057516320
23andMers1057516320
23andMe allrs1057516320
SNPshotrs1057516320
SNPdbers1057516320
MSV3drs1057516320
GWAS Ctlgrs1057516320
Max Magnitude0
ClinVar
Risk rs1057516320(T;T)
Alt rs1057516320(T;T)
Reference Rs1057516320(C;C)
Significance Probable-Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90993658G>A
CLNSRC
CLNACC RCV000410234.1,