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rs786204181

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204181(A;A)
Make rs786204181(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position89943272
GeneNBN
is asnp
is mentioned by
dbSNPrs786204181
ebirs786204181
HLIrs786204181
Exacrs786204181
Varsomers786204181
Maprs786204181
PheGenIrs786204181
hapmaprs786204181
1000 genomesrs786204181
hgdprs786204181
ensemblrs786204181
gopubmedrs786204181
geneviewrs786204181
scholarrs786204181
googlers786204181
pharmgkbrs786204181
gwascentralrs786204181
openSNPrs786204181
23andMers786204181
23andMe allrs786204181
SNP Nexus

SNPshotrs786204181
SNPdbers786204181
MSV3drs786204181
GWAS Ctlgrs786204181
Max Magnitude0
ClinVar
Risk rs786204181(A;A)
Alt rs786204181(A;A)
Reference Rs786204181(G;G)
Significance Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90955500C>T
CLNSRC
CLNACC RCV000168229.1,