rs199422251

Orientation

plus

Stabilized

plus

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

Make rs199422251(C;T)

Make rs199422251(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154773245

Gene	DKC1, SNORA56

is a	snp
is	mentioned by
dbSNP	rs199422251
dbSNP (classic)	rs199422251
ClinGen	rs199422251
ebi	rs199422251
HLI	rs199422251
Exac	rs199422251
Gnomad	rs199422251
Varsome	rs199422251
LitVar	rs199422251
Map	rs199422251
PheGenI	rs199422251
Biobank	rs199422251
1000 genomes	rs199422251
hgdp	rs199422251
ensembl	rs199422251
geneview	rs199422251
scholar	rs199422251
google	rs199422251
pharmgkb	rs199422251
gwascentral	rs199422251
openSNP	rs199422251
23andMe	rs199422251
SNPshot	rs199422251
SNPdbe	rs199422251
MSV3d	rs199422251
GWAS Ctlg	rs199422251

Max Magnitude

0

ClinVar
Risk	rs199422251(T;T)
Alt	rs199422251(T;T)
Reference	Rs199422251(C;C)
Significance	Pathogenic
Disease	Dyskeratosis congenita X-linked
Variation	info
Gene	SNORA56 DKC1
CLNDBN	Dyskeratosis congenita X-linked
Reversed	0
HGVS	NC_000023.10:g.154001520C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032186.1,