rs199422270

Orientation

minus

Stabilized

minus

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

Make rs199422270(-;-)

Make rs199422270(-;GACT)

Reference

GRCh38 38.1/141

Chromosome

3

Position

169764948

Gene

TERC

is a	snp
is	mentioned by
dbSNP	rs199422270
dbSNP (classic)	rs199422270
ClinGen	rs199422270
ebi	rs199422270
HLI	rs199422270
Exac	rs199422270
Gnomad	rs199422270
Varsome	rs199422270
LitVar	rs199422270
Map	rs199422270
PheGenI	rs199422270
Biobank	rs199422270
1000 genomes	rs199422270
hgdp	rs199422270
ensembl	rs199422270
geneview	rs199422270
scholar	rs199422270
google	rs199422270
pharmgkb	rs199422270
gwascentral	rs199422270
openSNP	rs199422270
23andMe	rs199422270
SNPshot	rs199422270
SNPdbe	rs199422270
MSV3d	rs199422270
GWAS Ctlg	rs199422270

Max Magnitude

0

ClinVar
Risk	rs199422270(-;-)
Alt	rs199422270(-;-)
Reference	Rs199422270(GACT;GACT)
Significance	Pathogenic
Disease	Pulmonary fibrosis and/or bone marrow failure Aplastic anemia
Variation	info
Gene	TERC
CLNDBN	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 Aplastic anemia
Reversed	1
HGVS	NC_000003.11:g.169482736_169482739delAGTC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007749.2, RCV000032556.1,