rs199422264

Orientation

minus

Stabilized

minus

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

Make rs199422264(-;-)

Make rs199422264(-;TAACTGAGAAGGGCGTAGGCGCCGTGCTTTTGCTC)

Reference

GRCh38 38.1/141

Chromosome

3

Position

169764974

Gene

TERC

is a	snp
is	mentioned by
dbSNP	rs199422264
dbSNP (classic)	rs199422264
ClinGen	rs199422264
ebi	rs199422264
HLI	rs199422264
Exac	rs199422264
Gnomad	rs199422264
Varsome	rs199422264
LitVar	rs199422264
Map	rs199422264
PheGenI	rs199422264
Biobank	rs199422264
1000 genomes	rs199422264
hgdp	rs199422264
ensembl	rs199422264
geneview	rs199422264
scholar	rs199422264
google	rs199422264
pharmgkb	rs199422264
gwascentral	rs199422264
openSNP	rs199422264
23andMe	rs199422264
SNPshot	rs199422264
SNPdbe	rs199422264
MSV3d	rs199422264
GWAS Ctlg	rs199422264

Max Magnitude

0

ClinVar
Risk	rs199422264(-;-)
Alt	rs199422264(-;-)
Reference	Rs199422264(TAACTGAGAAGGGCGTAGGCGCCGTGCTTTTGCTC;TAACTGAGAAGGGCGTAGGCGCCGTGCTTTTGCTC)
Significance	Pathogenic
Disease	Dyskeratosis congenita autosomal dominant
Variation	info
Gene	TERC
CLNDBN	Dyskeratosis congenita autosomal dominant
Reversed	1
HGVS	NC_000003.11:g.169482762_169482796del35
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032579.1,