rs199422320

Orientation

minus

Stabilized

minus

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

Make rs199422320(-;-)

Make rs199422320(-;C)

Reference

GRCh38 38.1/141

Chromosome

14

Position

24240588

Gene

TINF2

is a	snp
is	mentioned by
dbSNP	rs199422320
dbSNP (classic)	rs199422320
ClinGen	rs199422320
ebi	rs199422320
HLI	rs199422320
Exac	rs199422320
Gnomad	rs199422320
Varsome	rs199422320
LitVar	rs199422320
Map	rs199422320
PheGenI	rs199422320
Biobank	rs199422320
1000 genomes	rs199422320
hgdp	rs199422320
ensembl	rs199422320
geneview	rs199422320
scholar	rs199422320
google	rs199422320
pharmgkb	rs199422320
gwascentral	rs199422320
openSNP	rs199422320
23andMe	rs199422320
SNPshot	rs199422320
SNPdbe	rs199422320
MSV3d	rs199422320
GWAS Ctlg	rs199422320

Max Magnitude

0

ClinVar
Risk	rs199422320(-;-)
Alt	rs199422320(-;-)
Reference	Rs199422320(C;C)
Significance	Pathogenic
Disease	Dyskeratosis congenita autosomal dominant
Variation	info
Gene	TINF2
CLNDBN	Dyskeratosis congenita autosomal dominant
Reversed	1
HGVS	NC_000014.8:g.24709794delG
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032179.1,