rs199476393

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common genotype
(GC;GC)	0	common in clinvar

Make rs199476393(AG;AG)

Make rs199476393(AG;GC)

Reference

GRCh38 38.1/141

Chromosome

3

Position

169764953

Gene

TERC

is a	snp
is	mentioned by
dbSNP	rs199476393
dbSNP (classic)	rs199476393
ClinGen	rs199476393
ebi	rs199476393
HLI	rs199476393
Exac	rs199476393
Gnomad	rs199476393
Varsome	rs199476393
LitVar	rs199476393
Map	rs199476393
PheGenI	rs199476393
Biobank	rs199476393
1000 genomes	rs199476393
hgdp	rs199476393
ensembl	rs199476393
geneview	rs199476393
scholar	rs199476393
google	rs199476393
pharmgkb	rs199476393
gwascentral	rs199476393
openSNP	rs199476393
23andMe	rs199476393
SNPshot	rs199476393
SNPdbe	rs199476393
MSV3d	rs199476393
GWAS Ctlg	rs199476393

Max Magnitude

0

ClinVar
Risk	rs199476393(AG;AG)
Alt	rs199476393(AG;AG)
Reference	Rs199476393(GC;GC)
Significance	Pathogenic
Disease	Dyskeratosis congenita autosomal dominant
Variation	info
Gene	TERC
CLNDBN	Dyskeratosis congenita autosomal dominant
Reversed	1
HGVS	NC_000003.11:g.169482741_169482742delGCinsCT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007745.4,