rs878855300

Orientation

minus

Stabilized

minus

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

Make rs878855300(C;T)

Make rs878855300(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

5

Position

1279323

Gene

TERT

is a	snp
is	mentioned by
dbSNP	rs878855300
dbSNP (classic)	rs878855300
ClinGen	rs878855300
ebi	rs878855300
HLI	rs878855300
Exac	rs878855300
Gnomad	rs878855300
Varsome	rs878855300
LitVar	rs878855300
Map	rs878855300
PheGenI	rs878855300
Biobank	rs878855300
1000 genomes	rs878855300
hgdp	rs878855300
ensembl	rs878855300
geneview	rs878855300
scholar	rs878855300
google	rs878855300
pharmgkb	rs878855300
gwascentral	rs878855300
openSNP	rs878855300
23andMe	rs878855300
SNPshot	rs878855300
SNPdbe	rs878855300
MSV3d	rs878855300
GWAS Ctlg	rs878855300

Max Magnitude

0

ClinVar
Risk	rs878855300(T;T)
Alt	rs878855300(T;T)
Reference	Rs878855300(C;C)
Significance	Pathogenic
Disease	Dyskeratosis congenita
Variation	info
Gene	TERT
CLNDBN	Dyskeratosis congenita, autosomal dominant, 2
Reversed	1
HGVS	NC_000005.9:g.1279438G>A
CLNSRC
CLNACC	RCV000227254.1,