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rs61754966

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs61754966(C;C)
Make rs61754966(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position89978293
GeneNBN
is asnp
is mentioned by
dbSNPrs61754966
dbSNP (classic)rs61754966
ClinGenrs61754966
ebirs61754966
HLIrs61754966
Exacrs61754966
Gnomadrs61754966
Varsomers61754966
LitVarrs61754966
Maprs61754966
PheGenIrs61754966
Biobankrs61754966
1000 genomesrs61754966
hgdprs61754966
ensemblrs61754966
geneviewrs61754966
scholarrs61754966
googlers61754966
pharmgkbrs61754966
gwascentralrs61754966
openSNPrs61754966
23andMers61754966
SNPshotrs61754966
SNPdbers61754966
MSV3drs61754966
GWAS Ctlgrs61754966
GMAF0.0009183
Max Magnitude0
OMIM602667
Desc
Variant0007
Relatedalso


ClinVar
Risk rs61754966(C;C) rs61754966(G;G)
Alt rs61754966(C;C) rs61754966(G;G)
Reference Rs61754966(T;T)
Significance Other
Disease Aplastic anemia Leukemia Hereditary cancer-predisposing syndrome not specified Microcephaly Acute lymphoid leukemia
Variation info
Gene NBN
CLNDBN Aplastic anemia Leukemia, acute lymphoblastic, susceptibility to Hereditary cancer-predisposing syndrome not specified Microcephaly, normal intelligence and immunodeficiency Acute lymphoid leukemia
Reversed 0
HGVS NC_000008.10:g.90990521T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007360.5, RCV000007361.5, RCV000115797.7, RCV000121618.5, RCV000197512.4, RCV000490266.1,