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rs199422315

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs199422315(-;-)
Make rs199422315(-;C)
Make rs199422315(C;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position24240630
GeneTINF2
is asnp
is mentioned by
dbSNPrs199422315
ebirs199422315
HLIrs199422315
Exacrs199422315
Varsomers199422315
Maprs199422315
PheGenIrs199422315
hapmaprs199422315
1000 genomesrs199422315
hgdprs199422315
ensemblrs199422315
gopubmedrs199422315
geneviewrs199422315
scholarrs199422315
googlers199422315
pharmgkbrs199422315
gwascentralrs199422315
openSNPrs199422315
23andMers199422315
23andMe allrs199422315
SNP Nexus

SNPshotrs199422315
SNPdbers199422315
MSV3drs199422315
GWAS Ctlgrs199422315
Max Magnitude0
ClinVar
Risk rs199422315(C;C)
Alt rs199422315(C;C)
Reference rs199422315(;)
Significance Pathogenic
Disease Dyskeratosis congenita autosomal dominant
Variation info
Gene TINF2
CLNDBN Dyskeratosis congenita autosomal dominant
Reversed 1
HGVS NC_000014.8:g.24709837dupG
CLNSRC ClinVar GeneReviews
CLNACC RCV000032173.1,