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rs786205135

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786205135(G;G)
Make rs786205135(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position89970418
GeneNBN
is asnp
is mentioned by
dbSNPrs786205135
ebirs786205135
HLIrs786205135
Exacrs786205135
Varsomers786205135
Maprs786205135
PheGenIrs786205135
hapmaprs786205135
1000 genomesrs786205135
hgdprs786205135
ensemblrs786205135
gopubmedrs786205135
geneviewrs786205135
scholarrs786205135
googlers786205135
pharmgkbrs786205135
gwascentralrs786205135
openSNPrs786205135
23andMers786205135
23andMe allrs786205135
SNP Nexus

SNPshotrs786205135
SNPdbers786205135
MSV3drs786205135
GWAS Ctlgrs786205135
Max Magnitude0
ClinVar
Risk rs786205135(G;G)
Alt rs786205135(G;G)
Reference rs786205135(T;T)
Significance Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90982646A>C
CLNSRC
CLNACC RCV000170446.1, RCV000170447.2,