rs199422304

Orientation

minus

Stabilized

minus

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

Make rs199422304(C;T)

Make rs199422304(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

1264546

Gene

TERT

is a	snp
is	mentioned by
dbSNP	rs199422304
dbSNP (classic)	rs199422304
ClinGen	rs199422304
ebi	rs199422304
HLI	rs199422304
Exac	rs199422304
Gnomad	rs199422304
Varsome	rs199422304
LitVar	rs199422304
Map	rs199422304
PheGenI	rs199422304
Biobank	rs199422304
1000 genomes	rs199422304
hgdp	rs199422304
ensembl	rs199422304
geneview	rs199422304
scholar	rs199422304
google	rs199422304
pharmgkb	rs199422304
gwascentral	rs199422304
openSNP	rs199422304
23andMe	rs199422304
SNPshot	rs199422304
SNPdbe	rs199422304
MSV3d	rs199422304
GWAS Ctlg	rs199422304

Max Magnitude

0

ClinVar
Risk	rs199422304(A;A) rs199422304(T;T)
Alt	rs199422304(A;A) rs199422304(T;T)
Reference	Rs199422304(C;C)
Significance	Pathogenic
Disease	Dyskeratosis congenita Dyskeratosis congenita autosomal recessive 1
Variation	info
Gene	TERT
CLNDBN	Dyskeratosis congenita, autosomal recessive, 4 Dyskeratosis congenita autosomal recessive 1
Reversed	1
HGVS	NC_000005.9:g.1264661G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022785.20, RCV000032388.1,