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rs786202490

From SNPedia

Orientationminus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs786202490(-;-)
Make rs786202490(-;GT)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position89970451
GeneNBN
is asnp
is mentioned by
dbSNPrs786202490
ebirs786202490
HLIrs786202490
Exacrs786202490
Varsomers786202490
Maprs786202490
PheGenIrs786202490
hapmaprs786202490
1000 genomesrs786202490
hgdprs786202490
ensemblrs786202490
gopubmedrs786202490
geneviewrs786202490
scholarrs786202490
googlers786202490
pharmgkbrs786202490
gwascentralrs786202490
openSNPrs786202490
23andMers786202490
23andMe allrs786202490
SNP Nexus

SNPshotrs786202490
SNPdbers786202490
MSV3drs786202490
GWAS Ctlgrs786202490
Max Magnitude0
ClinVar
Risk rs786202490(;)
Alt rs786202490(;)
Reference rs786202490(GT;GT)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Microcephaly
Variation info
Gene NBN
CLNDBN Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90982679_90982680delAC
CLNSRC
CLNACC RCV000165330.1, RCV000205978.1,