rs199422321

Orientation

minus

Stabilized

minus

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

Make rs199422321(C;T)

Make rs199422321(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

24240774

Gene

TINF2

is a	snp
is	mentioned by
dbSNP	rs199422321
dbSNP (classic)	rs199422321
ClinGen	rs199422321
ebi	rs199422321
HLI	rs199422321
Exac	rs199422321
Gnomad	rs199422321
Varsome	rs199422321
LitVar	rs199422321
Map	rs199422321
PheGenI	rs199422321
Biobank	rs199422321
1000 genomes	rs199422321
hgdp	rs199422321
ensembl	rs199422321
geneview	rs199422321
scholar	rs199422321
google	rs199422321
pharmgkb	rs199422321
gwascentral	rs199422321
openSNP	rs199422321
23andMe	rs199422321
SNPshot	rs199422321
SNPdbe	rs199422321
MSV3d	rs199422321
GWAS Ctlg	rs199422321

Max Magnitude

0

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,