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rs199422259

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GTGGTGG;GTGGTGG) 0 common in clinvar
Make rs199422259(-;-)
Make rs199422259(-;GTGGTGG)
ReferenceGRCh38 38.1/141
Chromosome3
Position169765027
GeneTERC
is asnp
is mentioned by
dbSNPrs199422259
ebirs199422259
HLIrs199422259
Exacrs199422259
Varsomers199422259
Maprs199422259
PheGenIrs199422259
hapmaprs199422259
1000 genomesrs199422259
hgdprs199422259
ensemblrs199422259
gopubmedrs199422259
geneviewrs199422259
scholarrs199422259
googlers199422259
pharmgkbrs199422259
gwascentralrs199422259
openSNPrs199422259
23andMers199422259
23andMe allrs199422259
SNP Nexus

SNPshotrs199422259
SNPdbers199422259
MSV3drs199422259
GWAS Ctlgrs199422259
Max Magnitude0
ClinVar
Risk rs199422259(;)
Alt rs199422259(;)
Reference rs199422259(GTGGTGG;GTGGTGG)
Significance Pathogenic
Disease Aplastic anemia
Variation info
Gene TERC
CLNDBN Aplastic anemia
Reversed 1
HGVS NC_000003.11:g.169482815_169482821delCCACCAC
CLNSRC ClinVar GeneReviews
CLNACC RCV000032567.1,