rs199422315

Orientation

minus

Stabilized

minus

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

Make rs199422315(-;C)

Make rs199422315(C;C)

Reference

GRCh38 38.1/141

Chromosome

14

Position

24240630

Gene

TINF2

is a	snp
is	mentioned by
dbSNP	rs199422315
dbSNP (classic)	rs199422315
ClinGen	rs199422315
ebi	rs199422315
HLI	rs199422315
Exac	rs199422315
Gnomad	rs199422315
Varsome	rs199422315
LitVar	rs199422315
Map	rs199422315
PheGenI	rs199422315
Biobank	rs199422315
1000 genomes	rs199422315
hgdp	rs199422315
ensembl	rs199422315
geneview	rs199422315
scholar	rs199422315
google	rs199422315
pharmgkb	rs199422315
gwascentral	rs199422315
openSNP	rs199422315
23andMe	rs199422315
SNPshot	rs199422315
SNPdbe	rs199422315
MSV3d	rs199422315
GWAS Ctlg	rs199422315

Max Magnitude

0

ClinVar
Risk	rs199422315(C;C)
Alt	rs199422315(C;C)
Reference	Rs199422315(-;-)
Significance	Pathogenic
Disease	Dyskeratosis congenita autosomal dominant
Variation	info
Gene	TINF2
CLNDBN	Dyskeratosis congenita autosomal dominant
Reversed	1
HGVS	NC_000014.8:g.24709837dupG
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032173.1,