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rs199422321

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422321(C;T)
Make rs199422321(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position24240774
GeneTINF2
is asnp
is mentioned by
dbSNPrs199422321
ClinGenrs199422321
ebirs199422321
HLIrs199422321
Exacrs199422321
Varsomers199422321
Maprs199422321
PheGenIrs199422321
hapmaprs199422321
1000 genomesrs199422321
hgdprs199422321
ensemblrs199422321
gopubmedrs199422321
geneviewrs199422321
scholarrs199422321
googlers199422321
pharmgkbrs199422321
gwascentralrs199422321
openSNPrs199422321
23andMers199422321
23andMe allrs199422321
SNP Nexus

SNPshotrs199422321
SNPdbers199422321
MSV3drs199422321
GWAS Ctlgrs199422321
Max Magnitude0
ClinVar
Risk rs199422321(T;T)
Alt rs199422321(T;T)
Reference Rs199422321(C;C)
Significance Pathogenic
Disease Dyskeratosis congenita autosomal dominant Dyskeratosis Congenita not specified Revesz syndrome
Variation info
Gene TINF2
CLNDBN Dyskeratosis congenita autosomal dominant Dyskeratosis Congenita, Dominant not specified Revesz syndrome
Reversed 1
HGVS NC_000014.8:g.24709980G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032163.1, RCV000303934.1, RCV000347889.1, RCV000399248.1,