rs199422314

Orientation

minus

Stabilized

minus

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

Make rs199422314(A;G)

Make rs199422314(G;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

24240630

Gene

TINF2

is a	snp
is	mentioned by
dbSNP	rs199422314
dbSNP (classic)	rs199422314
ClinGen	rs199422314
ebi	rs199422314
HLI	rs199422314
Exac	rs199422314
Gnomad	rs199422314
Varsome	rs199422314
LitVar	rs199422314
Map	rs199422314
PheGenI	rs199422314
Biobank	rs199422314
1000 genomes	rs199422314
hgdp	rs199422314
ensembl	rs199422314
geneview	rs199422314
scholar	rs199422314
google	rs199422314
pharmgkb	rs199422314
gwascentral	rs199422314
openSNP	rs199422314
23andMe	rs199422314
SNPshot	rs199422314
SNPdbe	rs199422314
MSV3d	rs199422314
GWAS Ctlg	rs199422314

Max Magnitude

0

ClinVar
Risk	rs199422314(G;G)
Alt	rs199422314(G;G)
Reference	Rs199422314(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.24709836T>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032174.1,