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rs200287925

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200287925(A;A)
Make rs200287925(A;G)
ReferenceGRCh38 38.1/142
Chromosome8
Position89982766
GeneNBN
is asnp
is mentioned by
dbSNPrs200287925
dbSNP (classic)rs200287925
ClinGenrs200287925
ebirs200287925
HLIrs200287925
Exacrs200287925
Gnomadrs200287925
Varsomers200287925
LitVarrs200287925
Maprs200287925
PheGenIrs200287925
Biobankrs200287925
1000 genomesrs200287925
hgdprs200287925
ensemblrs200287925
geneviewrs200287925
scholarrs200287925
googlers200287925
pharmgkbrs200287925
gwascentralrs200287925
openSNPrs200287925
23andMers200287925
SNPshotrs200287925
SNPdbers200287925
MSV3drs200287925
GWAS Ctlgrs200287925
Max Magnitude0
ClinVar
Risk rs200287925(A;A)
Alt rs200287925(A;A)
Reference Rs200287925(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Microcephaly not provided
Variation info
Gene NBN
CLNDBN Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not provided
Reversed 0
HGVS NC_000008.10:g.90994994G>A
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000131193.3, RCV000409406.1, RCV000489509.1,