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

rs199476393

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs199476393(AG;AG)
Make rs199476393(AG;GC)
ReferenceGRCh38 38.1/141
Chromosome3
Position169764953
GeneTERC
is asnp
is mentioned by
dbSNPrs199476393
ebirs199476393
HLIrs199476393
Exacrs199476393
Varsomers199476393
Maprs199476393
PheGenIrs199476393
hapmaprs199476393
1000 genomesrs199476393
hgdprs199476393
ensemblrs199476393
gopubmedrs199476393
geneviewrs199476393
scholarrs199476393
googlers199476393
pharmgkbrs199476393
gwascentralrs199476393
openSNPrs199476393
23andMers199476393
23andMe allrs199476393
SNP Nexus

SNPshotrs199476393
SNPdbers199476393
MSV3drs199476393
GWAS Ctlgrs199476393
Max Magnitude0
ClinVar
Risk rs199476393(AG;AG)
Alt rs199476393(AG;AG)
Reference rs199476393(GC;GC)
Significance Pathogenic
Disease Dyskeratosis congenita autosomal dominant
Variation info
Gene TERC
CLNDBN Dyskeratosis congenita autosomal dominant
Reversed 1
HGVS NC_000003.11:g.169482741_169482742delGCinsCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000007745.4,