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rs876661305

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs876661305(C;T)
Make rs876661305(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position14610669
GenePARN
is asnp
is mentioned by
dbSNPrs876661305
dbSNP (classic)rs876661305
ClinGenrs876661305
ebirs876661305
HLIrs876661305
Exacrs876661305
Gnomadrs876661305
Varsomers876661305
LitVarrs876661305
Maprs876661305
PheGenIrs876661305
Biobankrs876661305
1000 genomesrs876661305
hgdprs876661305
ensemblrs876661305
geneviewrs876661305
scholarrs876661305
googlers876661305
pharmgkbrs876661305
gwascentralrs876661305
openSNPrs876661305
23andMers876661305
SNPshotrs876661305
SNPdbers876661305
MSV3drs876661305
GWAS Ctlgrs876661305
Max Magnitude0
ClinVar
Risk rs876661305(T;T)
Alt rs876661305(T;T)
Reference Rs876661305(C;C)
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.14704526G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000170590.2,