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rs1057517209

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517209(A;A)
Make rs1057517209(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position89958724
GeneNBN
is asnp
is mentioned by
dbSNPrs1057517209
dbSNP (old)rs1057517209
ClinGenrs1057517209
ebirs1057517209
HLIrs1057517209
Exacrs1057517209
Gnomadrs1057517209
Varsomers1057517209
Maprs1057517209
PheGenIrs1057517209
Biobankrs1057517209
1000 genomesrs1057517209
hgdprs1057517209
ensemblrs1057517209
gopubmedrs1057517209
geneviewrs1057517209
scholarrs1057517209
googlers1057517209
pharmgkbrs1057517209
gwascentralrs1057517209
openSNPrs1057517209
23andMers1057517209
23andMe allrs1057517209
SNPshotrs1057517209
SNPdbers1057517209
MSV3drs1057517209
GWAS Ctlgrs1057517209
Max Magnitude0
ClinVar
Risk rs1057517209(A;A)
Alt rs1057517209(A;A)
Reference Rs1057517209(G;G)
Significance Probable-Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90970952C>T
CLNSRC
CLNACC RCV000410092.1,