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rs199422283

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs199422283(-;-)
Make rs199422283(-;CC)
ReferenceGRCh38 38.1/141
Chromosome3
Position169764669
GeneTERC
is asnp
is mentioned by
dbSNPrs199422283
ebirs199422283
HLIrs199422283
Exacrs199422283
Varsomers199422283
Maprs199422283
PheGenIrs199422283
hapmaprs199422283
1000 genomesrs199422283
hgdprs199422283
ensemblrs199422283
gopubmedrs199422283
geneviewrs199422283
scholarrs199422283
googlers199422283
pharmgkbrs199422283
gwascentralrs199422283
openSNPrs199422283
23andMers199422283
23andMe allrs199422283
SNP Nexus

SNPshotrs199422283
SNPdbers199422283
MSV3drs199422283
GWAS Ctlgrs199422283
Max Magnitude0
ClinVar
Risk rs199422283(;)
Alt rs199422283(;)
Reference rs199422283(CC;CC)
Significance Pathogenic
Disease Aplastic anemia
Variation info
Gene TERC
CLNDBN Aplastic anemia
Reversed 1
HGVS NC_000003.11:g.169482457_169482458delGG
CLNSRC ClinVar GeneReviews
CLNACC RCV000032574.1,