rs199422263

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(AACT;AACT)	0	common in clinvar
(CTAA;CTAA)	0	common in clinvar
(I;I)	0	common genotype
(TAAC;TAAC)	0	common in clinvar

Make rs199422263(-;-)

Make rs199422263(-;CTAA)

Reference

GRCh38 38.1/141

Chromosome

3

Position

169765006

Gene

TERC

is a	snp
is	mentioned by
dbSNP	rs199422263
dbSNP (classic)	rs199422263
ClinGen	rs199422263
ebi	rs199422263
HLI	rs199422263
Exac	rs199422263
Gnomad	rs199422263
Varsome	rs199422263
LitVar	rs199422263
Map	rs199422263
PheGenI	rs199422263
Biobank	rs199422263
1000 genomes	rs199422263
hgdp	rs199422263
ensembl	rs199422263
geneview	rs199422263
scholar	rs199422263
google	rs199422263
pharmgkb	rs199422263
gwascentral	rs199422263
openSNP	rs199422263
23andMe	rs199422263
SNPshot	rs199422263
SNPdbe	rs199422263
MSV3d	rs199422263
GWAS Ctlg	rs199422263

Merged from

Rs587776876

Max Magnitude

0

ClinVar
Risk	Rs199422263(AACT;AACT) rs199422263(-;-)
Alt	Rs199422263(AACT;AACT) rs199422263(-;-)
Reference	Rs199422263(CTAA;CTAA)
Significance	Pathogenic
Disease	Dyskeratosis congenita autosomal dominant
Variation	info
Gene	TERC
CLNDBN	Dyskeratosis congenita autosomal dominant
Reversed	1
HGVS	NC_000003.11:g.169482792_169482795delAGTT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023192.5,