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rs1057517102

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517102(A;A)
Make rs1057517102(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position89955556
GeneNBN
is asnp
is mentioned by
dbSNPrs1057517102
dbSNP (old)rs1057517102
ClinGenrs1057517102
ebirs1057517102
HLIrs1057517102
Exacrs1057517102
Gnomadrs1057517102
Varsomers1057517102
Maprs1057517102
PheGenIrs1057517102
Biobankrs1057517102
1000 genomesrs1057517102
hgdprs1057517102
ensemblrs1057517102
gopubmedrs1057517102
geneviewrs1057517102
scholarrs1057517102
googlers1057517102
pharmgkbrs1057517102
gwascentralrs1057517102
openSNPrs1057517102
23andMers1057517102
23andMe allrs1057517102
SNPshotrs1057517102
SNPdbers1057517102
MSV3drs1057517102
GWAS Ctlgrs1057517102
Max Magnitude0
ClinVar
Risk rs1057517102(A;A)
Alt rs1057517102(A;A)
Reference Rs1057517102(G;G)
Significance Probable-Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90967784C>T
CLNSRC
CLNACC RCV000412152.1,