rs281865549

Orientation

plus

Stabilized

plus

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

Make rs281865549(C;T)

Make rs281865549(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

7702514

Gene

WRAP53

is a	snp
is	mentioned by
dbSNP	rs281865549
dbSNP (classic)	rs281865549
ClinGen	rs281865549
ebi	rs281865549
HLI	rs281865549
Exac	rs281865549
Gnomad	rs281865549
Varsome	rs281865549
LitVar	rs281865549
Map	rs281865549
PheGenI	rs281865549
Biobank	rs281865549
1000 genomes	rs281865549
hgdp	rs281865549
ensembl	rs281865549
geneview	rs281865549
scholar	rs281865549
google	rs281865549
pharmgkb	rs281865549
gwascentral	rs281865549
openSNP	rs281865549
23andMe	rs281865549
SNPshot	rs281865549
SNPdbe	rs281865549
MSV3d	rs281865549
GWAS Ctlg	rs281865549

Max Magnitude

0

ClinVar
Risk	rs281865549(T;T)
Alt	rs281865549(T;T)
Reference	Rs281865549(C;C)
Significance	Pathogenic
Disease	Dyskeratosis congenita
Variation	info
Gene	WRAP53
CLNDBN	Dyskeratosis congenita, autosomal recessive, 3
Reversed	0
HGVS	NC_000017.10:g.7605832C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023967.5,

[PMID 21205863] Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita.