rs199422319

Orientation

minus

Stabilized

minus

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

Make rs199422319(A;G)

Make rs199422319(G;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

24240609

Gene

TINF2

is a	snp
is	mentioned by
dbSNP	rs199422319
dbSNP (classic)	rs199422319
ClinGen	rs199422319
ebi	rs199422319
HLI	rs199422319
Exac	rs199422319
Gnomad	rs199422319
Varsome	rs199422319
LitVar	rs199422319
Map	rs199422319
PheGenI	rs199422319
Biobank	rs199422319
1000 genomes	rs199422319
hgdp	rs199422319
ensembl	rs199422319
geneview	rs199422319
scholar	rs199422319
google	rs199422319
pharmgkb	rs199422319
gwascentral	rs199422319
openSNP	rs199422319
23andMe	rs199422319
SNPshot	rs199422319
SNPdbe	rs199422319
MSV3d	rs199422319
GWAS Ctlg	rs199422319

Max Magnitude

0

ClinVar
Risk	rs199422319(G;G)
Alt	rs199422319(G;G)
Reference	Rs199422319(A;A)
Significance	Pathogenic
Disease	Dyskeratosis congenita autosomal dominant
Variation	info
Gene	TINF2
CLNDBN	Dyskeratosis congenita autosomal dominant
Reversed	1
HGVS	NC_000014.8:g.24709815T>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032178.1,