rs281865550

Orientation

plus

Stabilized

plus

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

Make rs281865550(A;A)

Make rs281865550(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

7703027

Gene

WRAP53

is a	snp
is	mentioned by
dbSNP	rs281865550
dbSNP (classic)	rs281865550
ClinGen	rs281865550
ebi	rs281865550
HLI	rs281865550
Exac	rs281865550
Gnomad	rs281865550
Varsome	rs281865550
LitVar	rs281865550
Map	rs281865550
PheGenI	rs281865550
Biobank	rs281865550
1000 genomes	rs281865550
hgdp	rs281865550
ensembl	rs281865550
geneview	rs281865550
scholar	rs281865550
google	rs281865550
pharmgkb	rs281865550
gwascentral	rs281865550
openSNP	rs281865550
23andMe	rs281865550
SNPshot	rs281865550
SNPdbe	rs281865550
MSV3d	rs281865550
GWAS Ctlg	rs281865550

Max Magnitude

0

ClinVar
Risk	rs281865550(A;A)
Alt	rs281865550(A;A)
Reference	Rs281865550(G;G)
Significance	Pathogenic
Disease	Dyskeratosis congenita
Variation	info
Gene	WRAP53
CLNDBN	Dyskeratosis congenita, autosomal recessive, 3
Reversed	0
HGVS	NC_000017.10:g.7606345G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000034151.7,

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