rs199422316

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs199422316(C;C)

Make rs199422316(C;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

24240620

Gene

TINF2

is a	snp
is	mentioned by
dbSNP	rs199422316
dbSNP (classic)	rs199422316
ClinGen	rs199422316
ebi	rs199422316
HLI	rs199422316
Exac	rs199422316
Gnomad	rs199422316
Varsome	rs199422316
LitVar	rs199422316
Map	rs199422316
PheGenI	rs199422316
Biobank	rs199422316
1000 genomes	rs199422316
hgdp	rs199422316
ensembl	rs199422316
geneview	rs199422316
scholar	rs199422316
google	rs199422316
pharmgkb	rs199422316
gwascentral	rs199422316
openSNP	rs199422316
23andMe	rs199422316
SNPshot	rs199422316
SNPdbe	rs199422316
MSV3d	rs199422316
GWAS Ctlg	rs199422316

Max Magnitude

0

ClinVar
Risk	rs199422316(C;C)
Alt	rs199422316(C;C)
Reference	Rs199422316(T;T)
Significance	Pathogenic
Disease	Dyskeratosis congenita autosomal dominant
Variation	info
Gene	TINF2
CLNDBN	Dyskeratosis congenita autosomal dominant
Reversed	1
HGVS	NC_000014.8:g.24709826A>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032175.1,