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rs1057517262

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517262(A;A)
Make rs1057517262(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position89937076
GeneNBN
is asnp
is mentioned by
dbSNPrs1057517262
dbSNP (classic)rs1057517262
ClinGenrs1057517262
ebirs1057517262
HLIrs1057517262
Exacrs1057517262
Gnomadrs1057517262
Varsomers1057517262
LitVarrs1057517262
Maprs1057517262
PheGenIrs1057517262
Biobankrs1057517262
1000 genomesrs1057517262
hgdprs1057517262
ensemblrs1057517262
geneviewrs1057517262
scholarrs1057517262
googlers1057517262
pharmgkbrs1057517262
gwascentralrs1057517262
openSNPrs1057517262
23andMers1057517262
23andMe allrs1057517262
SNPshotrs1057517262
SNPdbers1057517262
MSV3drs1057517262
GWAS Ctlgrs1057517262
Max Magnitude0
ClinVar
Risk rs1057517262(A;A)
Alt rs1057517262(A;A)
Reference Rs1057517262(G;G)
Significance Probable-Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90949304C>T
CLNSRC
CLNACC RCV000409942.1,