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rs199422277

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422277(C;G)
Make rs199422277(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position169764857
GeneTERC
is asnp
is mentioned by
dbSNPrs199422277
ebirs199422277
HLIrs199422277
Exacrs199422277
Varsomers199422277
Maprs199422277
PheGenIrs199422277
hapmaprs199422277
1000 genomesrs199422277
hgdprs199422277
ensemblrs199422277
gopubmedrs199422277
geneviewrs199422277
scholarrs199422277
googlers199422277
pharmgkbrs199422277
gwascentralrs199422277
openSNPrs199422277
23andMers199422277
23andMe allrs199422277
SNP Nexus

SNPshotrs199422277
SNPdbers199422277
MSV3drs199422277
GWAS Ctlgrs199422277
Max Magnitude0
ClinVar
Risk rs199422277(G;G)
Alt rs199422277(G;G)
Reference rs199422277(C;C)
Significance Pathogenic
Disease Pulmonary fibrosis and/or bone marrow failure Dyskeratosis congenita autosomal dominant
Variation info
Gene TERC
CLNDBN Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 Dyskeratosis congenita autosomal dominant
Reversed 1
HGVS NC_000003.11:g.169482645G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000007746.2, RCV000032564.1,