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rs878853260

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs878853260(-;T)
Make rs878853260(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position14609114
GenePARN
is asnp
is mentioned by
dbSNPrs878853260
dbSNP (classic)rs878853260
ClinGenrs878853260
ebirs878853260
HLIrs878853260
Exacrs878853260
Gnomadrs878853260
Varsomers878853260
LitVarrs878853260
Maprs878853260
PheGenIrs878853260
Biobankrs878853260
1000 genomesrs878853260
hgdprs878853260
ensemblrs878853260
geneviewrs878853260
scholarrs878853260
googlers878853260
pharmgkbrs878853260
gwascentralrs878853260
openSNPrs878853260
23andMers878853260
SNPshotrs878853260
SNPdbers878853260
MSV3drs878853260
GWAS Ctlgrs878853260
Max Magnitude0
ClinVar
Risk rs878853260(T;T)
Alt rs878853260(T;T)
Reference Rs878853260(-;-)
Significance Pathogenic
Disease Pulmonary fibrosis and/or bone marrow failure
Variation info
Gene PARN
CLNDBN Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4
Reversed 1
HGVS NC_000016.9:g.14702972dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000170591.2,