rs199422297

Orientation

minus

Stabilized

minus

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

Make rs199422297(C;T)

Make rs199422297(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

1279311

Gene

TERT

is a	snp
is	mentioned by
dbSNP	rs199422297
dbSNP (classic)	rs199422297
ClinGen	rs199422297
ebi	rs199422297
HLI	rs199422297
Exac	rs199422297
Gnomad	rs199422297
Varsome	rs199422297
LitVar	rs199422297
Map	rs199422297
PheGenI	rs199422297
Biobank	rs199422297
1000 genomes	rs199422297
hgdp	rs199422297
ensembl	rs199422297
geneview	rs199422297
scholar	rs199422297
google	rs199422297
pharmgkb	rs199422297
gwascentral	rs199422297
openSNP	rs199422297
23andMe	rs199422297
SNPshot	rs199422297
SNPdbe	rs199422297
MSV3d	rs199422297
GWAS Ctlg	rs199422297

Max Magnitude

0

ClinVar
Risk	rs199422297(T;T)
Alt	rs199422297(T;T)
Reference	Rs199422297(C;C)
Significance	Pathogenic
Disease	Dyskeratosis congenita Dyskeratosis congenita autosomal dominant
Variation	info
Gene	TERT
CLNDBN	Dyskeratosis congenita, autosomal recessive, 4 Dyskeratosis congenita autosomal dominant
Reversed	1
HGVS	NC_000005.9:g.1279426G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022786.23, RCV000032375.1,