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rs587776876

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AACTG;AACTG) 0 common in clinvar
(AGTT;AGTT) 0 common in clinvar
Make rs587776876(-;-)
Make rs587776876(-;AGTT)
ReferenceGRCh38 38.1/142
Chromosome3
Position169765004
GeneTERC
is asnp
is mentioned by
dbSNPrs587776876
ebirs587776876
HLIrs587776876
Exacrs587776876
Varsomers587776876
Maprs587776876
PheGenIrs587776876
hapmaprs587776876
1000 genomesrs587776876
hgdprs587776876
ensemblrs587776876
gopubmedrs587776876
geneviewrs587776876
scholarrs587776876
googlers587776876
pharmgkbrs587776876
gwascentralrs587776876
openSNPrs587776876
23andMers587776876
23andMe allrs587776876
SNP Nexus

SNPshotrs587776876
SNPdbers587776876
MSV3drs587776876
GWAS Ctlgrs587776876
Max Magnitude0
ClinVar
Risk rs587776876(AGTTG,G;AGTTG,G)
Alt rs587776876(AGTTG,G;AGTTG,G)
Reference rs587776876(AACTG;AACTG)
Significance Pathogenic
Disease Dyskeratosis congenita autosomal dominant
Variation info
Gene TERC
CLNDBN Dyskeratosis congenita autosomal dominant
Reversed 1
HGVS NC_000003.11:g.169482792_169482795delAGTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000023192.5,