Have questions? Visit https://www.reddit.com/r/SNPedia

rs199422265

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422265(C;G)
Make rs199422265(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position169764989
GeneTERC
is asnp
is mentioned by
dbSNPrs199422265
ebirs199422265
HLIrs199422265
Exacrs199422265
Varsomers199422265
Maprs199422265
PheGenIrs199422265
hapmaprs199422265
1000 genomesrs199422265
hgdprs199422265
ensemblrs199422265
gopubmedrs199422265
geneviewrs199422265
scholarrs199422265
googlers199422265
pharmgkbrs199422265
gwascentralrs199422265
openSNPrs199422265
23andMers199422265
23andMe allrs199422265
SNP Nexus

SNPshotrs199422265
SNPdbers199422265
MSV3drs199422265
GWAS Ctlgrs199422265
Max Magnitude0
ClinVar
Risk rs199422265(G,T;G,T)
Alt rs199422265(G,T;G,T)
Reference rs199422265(C;C)
Significance Pathogenic
Disease Pulmonary fibrosis and/or bone marrow failure Aplastic anemia
Variation info
Gene TERC
CLNDBN Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 Aplastic anemia
Reversed 1
HGVS NC_000003.11:g.169482777G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000007748.3, RCV000032581.1,