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

rs199422319

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199422319(A;G)
Make rs199422319(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position24240609
GeneTINF2
is asnp
is mentioned by
dbSNPrs199422319
ebirs199422319
HLIrs199422319
Exacrs199422319
Varsomers199422319
Maprs199422319
PheGenIrs199422319
hapmaprs199422319
1000 genomesrs199422319
hgdprs199422319
ensemblrs199422319
gopubmedrs199422319
geneviewrs199422319
scholarrs199422319
googlers199422319
pharmgkbrs199422319
gwascentralrs199422319
openSNPrs199422319
23andMers199422319
23andMe allrs199422319
SNP Nexus

SNPshotrs199422319
SNPdbers199422319
MSV3drs199422319
GWAS Ctlgrs199422319
Max Magnitude0
ClinVar
Risk rs199422319(G;G)
Alt rs199422319(G;G)
Reference rs199422319(A;A)
Significance Pathogenic
Disease Dyskeratosis congenita autosomal dominant
Variation info
Gene TINF2
CLNDBN Dyskeratosis congenita autosomal dominant
Reversed 1
HGVS NC_000014.8:g.24709815T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032178.1,