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

rs199422270

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GACT;GACT) 0 common in clinvar
Make rs199422270(-;-)
Make rs199422270(-;GACT)
ReferenceGRCh38 38.1/141
Chromosome3
Position169764948
GeneTERC
is asnp
is mentioned by
dbSNPrs199422270
ebirs199422270
HLIrs199422270
Exacrs199422270
Varsomers199422270
Maprs199422270
PheGenIrs199422270
hapmaprs199422270
1000 genomesrs199422270
hgdprs199422270
ensemblrs199422270
gopubmedrs199422270
geneviewrs199422270
scholarrs199422270
googlers199422270
pharmgkbrs199422270
gwascentralrs199422270
openSNPrs199422270
23andMers199422270
23andMe allrs199422270
SNP Nexus

SNPshotrs199422270
SNPdbers199422270
MSV3drs199422270
GWAS Ctlgrs199422270
Max Magnitude0
ClinVar
Risk rs199422270(;)
Alt rs199422270(;)
Reference rs199422270(GACT;GACT)
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.169482736_169482739delAGTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000007749.2, RCV000032556.1,