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rs777090017

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs777090017(C;C)
Make rs777090017(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position14580874
GenePARN
is asnp
is mentioned by
dbSNPrs777090017
ebirs777090017
HLIrs777090017
Exacrs777090017
Varsomers777090017
Maprs777090017
PheGenIrs777090017
hapmaprs777090017
1000 genomesrs777090017
hgdprs777090017
ensemblrs777090017
gopubmedrs777090017
geneviewrs777090017
scholarrs777090017
googlers777090017
pharmgkbrs777090017
gwascentralrs777090017
openSNPrs777090017
23andMers777090017
23andMe allrs777090017
SNP Nexus

SNPshotrs777090017
SNPdbers777090017
MSV3drs777090017
GWAS Ctlgrs777090017
Max Magnitude0
ClinVar
Risk rs777090017(C;C)
Alt rs777090017(C;C)
Reference rs777090017(T;T)
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 0
HGVS NC_000016.9:g.14674731T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000170592.2,