rs199422313

Orientation

minus

Stabilized

minus

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

Make rs199422313(A;A)

Make rs199422313(A;C)

Reference

GRCh38 38.1/141

Chromosome

14

Position

24240632

Gene

TINF2

is a	snp
is	mentioned by
dbSNP	rs199422313
dbSNP (classic)	rs199422313
ClinGen	rs199422313
ebi	rs199422313
HLI	rs199422313
Exac	rs199422313
Gnomad	rs199422313
Varsome	rs199422313
LitVar	rs199422313
Map	rs199422313
PheGenI	rs199422313
Biobank	rs199422313
1000 genomes	rs199422313
hgdp	rs199422313
ensembl	rs199422313
geneview	rs199422313
scholar	rs199422313
google	rs199422313
pharmgkb	rs199422313
gwascentral	rs199422313
openSNP	rs199422313
23andMe	rs199422313
SNPshot	rs199422313
SNPdbe	rs199422313
MSV3d	rs199422313
GWAS Ctlg	rs199422313

Max Magnitude

0

ClinVar
Risk	rs199422313(A;A)
Alt	rs199422313(A;A)
Reference	Rs199422313(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.24709838G>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032172.1,