rs199422307

Orientation

minus

Stabilized

minus

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

Make rs199422307(C;C)

Make rs199422307(C;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

1255401

Gene

TERT

is a	snp
is	mentioned by
dbSNP	rs199422307
dbSNP (classic)	rs199422307
ClinGen	rs199422307
ebi	rs199422307
HLI	rs199422307
Exac	rs199422307
Gnomad	rs199422307
Varsome	rs199422307
LitVar	rs199422307
Map	rs199422307
PheGenI	rs199422307
Biobank	rs199422307
1000 genomes	rs199422307
hgdp	rs199422307
ensembl	rs199422307
geneview	rs199422307
scholar	rs199422307
google	rs199422307
pharmgkb	rs199422307
gwascentral	rs199422307
openSNP	rs199422307
23andMe	rs199422307
SNPshot	rs199422307
SNPdbe	rs199422307
MSV3d	rs199422307
GWAS Ctlg	rs199422307

Max Magnitude

0

ClinVar
Risk	rs199422307(C;C)
Alt	rs199422307(C;C)
Reference	Rs199422307(T;T)
Significance	Pathogenic
Disease	Aplastic anemia
Variation	info
Gene	TERT
CLNDBN	Aplastic anemia
Reversed	1
HGVS	NC_000005.9:g.1255516A>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032392.1,