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rs150576702

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs150576702(C;T)
Make rs150576702(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position34937404
GeneDNAJC21
is asnp
is mentioned by
dbSNPrs150576702
dbSNP (classic)rs150576702
ClinGenrs150576702
ebirs150576702
HLIrs150576702
Exacrs150576702
Gnomadrs150576702
Varsomers150576702
LitVarrs150576702
Maprs150576702
PheGenIrs150576702
Biobankrs150576702
1000 genomesrs150576702
hgdprs150576702
ensemblrs150576702
geneviewrs150576702
scholarrs150576702
googlers150576702
pharmgkbrs150576702
gwascentralrs150576702
openSNPrs150576702
23andMers150576702
SNPshotrs150576702
SNPdbers150576702
MSV3drs150576702
GWAS Ctlgrs150576702
Max Magnitude0
ClinVar
Risk rs150576702(T;T)
Alt rs150576702(T;T)
Reference Rs150576702(C;C)
Significance Pathogenic
Disease Inherited bone marrow failure syndrome Bone marrow failure syndrome 3
Variation info
Gene DNAJC21
CLNDBN Inherited bone marrow failure syndrome Bone marrow failure syndrome 3
Reversed 0
HGVS NC_000005.9:g.34937509C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000236259.1, RCV000239500.1,