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rs199422318

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs199422318(AG;AG)
Make rs199422318(AG;CC)
ReferenceGRCh38 38.1/141
Chromosome14
Position24240614
GeneTINF2
is asnp
is mentioned by
dbSNPrs199422318
ebirs199422318
HLIrs199422318
Exacrs199422318
Varsomers199422318
Maprs199422318
PheGenIrs199422318
hapmaprs199422318
1000 genomesrs199422318
hgdprs199422318
ensemblrs199422318
gopubmedrs199422318
geneviewrs199422318
scholarrs199422318
googlers199422318
pharmgkbrs199422318
gwascentralrs199422318
openSNPrs199422318
23andMers199422318
23andMe allrs199422318
SNP Nexus

SNPshotrs199422318
SNPdbers199422318
MSV3drs199422318
GWAS Ctlgrs199422318
Max Magnitude0
ClinVar
Risk rs199422318(AG;AG)
Alt rs199422318(AG;AG)
Reference rs199422318(CC;CC)
Significance Pathogenic
Disease Dyskeratosis congenita autosomal dominant
Variation info
Gene TINF2
CLNDBN Dyskeratosis congenita autosomal dominant
Reversed 1
HGVS NC_000014.8:g.24709820_24709821delGGinsCT
CLNSRC ClinVar GeneReviews
CLNACC RCV000032177.1,