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rs368148362

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs368148362(A;A)
Make rs368148362(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position34941184
GeneDNAJC21
is asnp
is mentioned by
dbSNPrs368148362
dbSNP (classic)rs368148362
ClinGenrs368148362
ebirs368148362
HLIrs368148362
Exacrs368148362
Gnomadrs368148362
Varsomers368148362
LitVarrs368148362
Maprs368148362
PheGenIrs368148362
Biobankrs368148362
1000 genomesrs368148362
hgdprs368148362
ensemblrs368148362
geneviewrs368148362
scholarrs368148362
googlers368148362
pharmgkbrs368148362
gwascentralrs368148362
openSNPrs368148362
23andMers368148362
SNPshotrs368148362
SNPdbers368148362
MSV3drs368148362
GWAS Ctlgrs368148362
Max Magnitude0
ClinVar
Risk rs368148362(A;A) rs368148362(T;T)
Alt rs368148362(A;A) rs368148362(T;T)
Reference Rs368148362(G;G)
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.34941289G>A; NC_000005.9:g.34941289G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000235793.1, RCV000239558.1,