rs199422278

Orientation

minus

Stabilized

minus

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

Make rs199422278(-;-)

Make rs199422278(-;GGCGGGTCGCCTGC)

Reference

GRCh38 38.1/141

Chromosome

3

Position

169764832

Gene

TERC

is a	snp
is	mentioned by
dbSNP	rs199422278
dbSNP (classic)	rs199422278
ClinGen	rs199422278
ebi	rs199422278
HLI	rs199422278
Exac	rs199422278
Gnomad	rs199422278
Varsome	rs199422278
LitVar	rs199422278
Map	rs199422278
PheGenI	rs199422278
Biobank	rs199422278
1000 genomes	rs199422278
hgdp	rs199422278
ensembl	rs199422278
geneview	rs199422278
scholar	rs199422278
google	rs199422278
pharmgkb	rs199422278
gwascentral	rs199422278
openSNP	rs199422278
23andMe	rs199422278
SNPshot	rs199422278
SNPdbe	rs199422278
MSV3d	rs199422278
GWAS Ctlg	rs199422278

Max Magnitude

0

ClinVar
Risk	rs199422278(-;-)
Alt	rs199422278(-;-)
Reference	Rs199422278(GGCGGGTCGCCTGC;GGCGGGTCGCCTGC)
Significance	Pathogenic
Disease	Dyskeratosis congenita autosomal dominant
Variation	info
Gene	TERC
CLNDBN	Dyskeratosis congenita autosomal dominant
Reversed	1
HGVS	NC_000003.11:g.169482620_169482633delGCAGGCGACCCGCC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032565.1,