Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057517075

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517075(-;-)
Make rs1057517075(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position89946138
GeneNBN
is asnp
is mentioned by
dbSNPrs1057517075
dbSNP (classic)rs1057517075
ClinGenrs1057517075
ebirs1057517075
HLIrs1057517075
Exacrs1057517075
Gnomadrs1057517075
Varsomers1057517075
LitVarrs1057517075
Maprs1057517075
PheGenIrs1057517075
Biobankrs1057517075
1000 genomesrs1057517075
hgdprs1057517075
ensemblrs1057517075
geneviewrs1057517075
scholarrs1057517075
googlers1057517075
pharmgkbrs1057517075
gwascentralrs1057517075
openSNPrs1057517075
23andMers1057517075
23andMe allrs1057517075
SNPshotrs1057517075
SNPdbers1057517075
MSV3drs1057517075
GWAS Ctlgrs1057517075
Max Magnitude0
ClinVar
Risk rs1057517075(-;-)
Alt rs1057517075(-;-)
Reference Rs1057517075(T;T)
Significance Probable-Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90958366delA
CLNSRC
CLNACC RCV000410827.1,