Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057519585

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519585(G;G)
Make rs1057519585(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position89980884
GeneNBN
is asnp
is mentioned by
dbSNPrs1057519585
dbSNP (old)rs1057519585
ClinGenrs1057519585
ebirs1057519585
HLIrs1057519585
Exacrs1057519585
Gnomadrs1057519585
Varsomers1057519585
Maprs1057519585
PheGenIrs1057519585
Biobankrs1057519585
1000 genomesrs1057519585
hgdprs1057519585
ensemblrs1057519585
gopubmedrs1057519585
geneviewrs1057519585
scholarrs1057519585
googlers1057519585
pharmgkbrs1057519585
gwascentralrs1057519585
openSNPrs1057519585
23andMers1057519585
23andMe allrs1057519585
SNPshotrs1057519585
SNPdbers1057519585
MSV3drs1057519585
GWAS Ctlgrs1057519585
Max Magnitude0
ClinVar
Risk rs1057519585(G;G)
Alt rs1057519585(G;G)
Reference Rs1057519585(T;T)
Significance Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90993112A>C
CLNSRC
CLNACC RCV000417080.1,