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rs751381953

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs751381953(C;C)
Make rs751381953(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position14627189
GenePARN
is asnp
is mentioned by
dbSNPrs751381953
ebirs751381953
HLIrs751381953
Exacrs751381953
Varsomers751381953
Maprs751381953
PheGenIrs751381953
hapmaprs751381953
1000 genomesrs751381953
hgdprs751381953
ensemblrs751381953
gopubmedrs751381953
geneviewrs751381953
scholarrs751381953
googlers751381953
pharmgkbrs751381953
gwascentralrs751381953
openSNPrs751381953
23andMers751381953
23andMe allrs751381953
SNP Nexus

SNPshotrs751381953
SNPdbers751381953
MSV3drs751381953
GWAS Ctlgrs751381953
Max Magnitude0
ClinVar
Risk rs751381953(C;C)
Alt rs751381953(C;C)
Reference rs751381953(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.14721046T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000170589.2,