rs199422322

Orientation

minus

Stabilized

minus

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

Make rs199422322(A;A)

Make rs199422322(A;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

24240639

Gene

TINF2

is a	snp
is	mentioned by
dbSNP	rs199422322
dbSNP (classic)	rs199422322
ClinGen	rs199422322
ebi	rs199422322
HLI	rs199422322
Exac	rs199422322
Gnomad	rs199422322
Varsome	rs199422322
LitVar	rs199422322
Map	rs199422322
PheGenI	rs199422322
Biobank	rs199422322
1000 genomes	rs199422322
hgdp	rs199422322
ensembl	rs199422322
geneview	rs199422322
scholar	rs199422322
google	rs199422322
pharmgkb	rs199422322
gwascentral	rs199422322
openSNP	rs199422322
23andMe	rs199422322
SNPshot	rs199422322
SNPdbe	rs199422322
MSV3d	rs199422322
GWAS Ctlg	rs199422322

Max Magnitude

0

ClinVar
Risk	rs199422322(A;A)
Alt	rs199422322(A;A)
Reference	Rs199422322(G;G)
Significance	Pathogenic
Disease	Dyskeratosis congenita autosomal dominant Dyskeratosis Congenita Revesz syndrome
Variation	info
Gene	TINF2
CLNDBN	Dyskeratosis congenita autosomal dominant Dyskeratosis Congenita, Dominant Revesz syndrome
Reversed	1
HGVS	NC_000014.8:g.24709845C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032167.1, RCV000319654.1, RCV000372254.1,