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rs199422320

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422320(-;-)
Make rs199422320(-;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position24240588
GeneTINF2
is asnp
is mentioned by
dbSNPrs199422320
ebirs199422320
HLIrs199422320
Exacrs199422320
Varsomers199422320
Maprs199422320
PheGenIrs199422320
hapmaprs199422320
1000 genomesrs199422320
hgdprs199422320
ensemblrs199422320
gopubmedrs199422320
geneviewrs199422320
scholarrs199422320
googlers199422320
pharmgkbrs199422320
gwascentralrs199422320
openSNPrs199422320
23andMers199422320
23andMe allrs199422320
SNP Nexus

SNPshotrs199422320
SNPdbers199422320
MSV3drs199422320
GWAS Ctlgrs199422320
Max Magnitude0
ClinVar
Risk rs199422320(;)
Alt rs199422320(;)
Reference rs199422320(C;C)
Significance Pathogenic
Disease Dyskeratosis congenita autosomal dominant
Variation info
Gene TINF2
CLNDBN Dyskeratosis congenita autosomal dominant
Reversed 1
HGVS NC_000014.8:g.24709794delG
CLNSRC ClinVar GeneReviews
CLNACC RCV000032179.1,