rs199422311

Orientation

minus

Stabilized

minus

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

Make rs199422311(C;T)

Make rs199422311(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

24240633

Gene

TINF2

is a	snp
is	mentioned by
dbSNP	rs199422311
dbSNP (classic)	rs199422311
ClinGen	rs199422311
ebi	rs199422311
HLI	rs199422311
Exac	rs199422311
Gnomad	rs199422311
Varsome	rs199422311
LitVar	rs199422311
Map	rs199422311
PheGenI	rs199422311
Biobank	rs199422311
1000 genomes	rs199422311
hgdp	rs199422311
ensembl	rs199422311
geneview	rs199422311
scholar	rs199422311
google	rs199422311
pharmgkb	rs199422311
gwascentral	rs199422311
openSNP	rs199422311
23andMe	rs199422311
SNPshot	rs199422311
SNPdbe	rs199422311
MSV3d	rs199422311
GWAS Ctlg	rs199422311

Max Magnitude

0

ClinVar
Risk	rs199422311(G;G) rs199422311(T;T)
Alt	rs199422311(G;G) rs199422311(T;T)
Reference	Rs199422311(C;C)
Significance	Pathogenic
Disease	Dyskeratosis congenita autosomal dominant not provided
Variation	info
Gene	TINF2
CLNDBN	Dyskeratosis congenita autosomal dominant not provided
Reversed	1
HGVS	NC_000014.8:g.24709839G>A; NC_000014.8:g.24709839G>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032171.1, RCV000428138.1, RCV000032170.1,