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rs1057517104

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517104(A;A)
Make rs1057517104(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position89971172
GeneNBN
is asnp
is mentioned by
dbSNPrs1057517104
dbSNP (old)rs1057517104
ClinGenrs1057517104
ebirs1057517104
HLIrs1057517104
Exacrs1057517104
Gnomadrs1057517104
Varsomers1057517104
LitVarrs1057517104
Maprs1057517104
PheGenIrs1057517104
Biobankrs1057517104
1000 genomesrs1057517104
hgdprs1057517104
ensemblrs1057517104
gopubmedrs1057517104
geneviewrs1057517104
scholarrs1057517104
googlers1057517104
pharmgkbrs1057517104
gwascentralrs1057517104
openSNPrs1057517104
23andMers1057517104
23andMe allrs1057517104
SNPshotrs1057517104
SNPdbers1057517104
MSV3drs1057517104
GWAS Ctlgrs1057517104
Max Magnitude0
ClinVar
Risk rs1057517104(A;A) rs1057517104(T;T)
Alt rs1057517104(A;A) rs1057517104(T;T)
Reference Rs1057517104(G;G)
Significance Pathogenic
Disease not provided Microcephaly
Variation info
Gene NBN
CLNDBN not provided Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90983400C>A; NC_000008.10:g.90983400C>T
CLNSRC
CLNACC RCV000481637.1, RCV000411476.1,