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rs199422322

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422322(A;A)
Make rs199422322(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position24240639
GeneTINF2
is asnp
is mentioned by
dbSNPrs199422322
ebirs199422322
HLIrs199422322
Exacrs199422322
Varsomers199422322
Maprs199422322
PheGenIrs199422322
hapmaprs199422322
1000 genomesrs199422322
hgdprs199422322
ensemblrs199422322
gopubmedrs199422322
geneviewrs199422322
scholarrs199422322
googlers199422322
pharmgkbrs199422322
gwascentralrs199422322
openSNPrs199422322
23andMers199422322
23andMe allrs199422322
SNP Nexus

SNPshotrs199422322
SNPdbers199422322
MSV3drs199422322
GWAS Ctlgrs199422322
Max Magnitude0
ClinVar
Risk rs199422322(A;A)
Alt rs199422322(A;A)
Reference rs199422322(G;G)
Significance Pathogenic
Disease Dyskeratosis congenita autosomal dominant
Variation info
Gene TINF2
CLNDBN Dyskeratosis congenita autosomal dominant
Reversed 1
HGVS NC_000014.8:g.24709845C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032167.1,