rs199422254

Orientation

plus

Stabilized

plus

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

Make rs199422254(C;T)

Make rs199422254(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154774669

Gene	DKC1, SNORA56

is a	snp
is	mentioned by
dbSNP	rs199422254
dbSNP (classic)	rs199422254
ClinGen	rs199422254
ebi	rs199422254
HLI	rs199422254
Exac	rs199422254
Gnomad	rs199422254
Varsome	rs199422254
LitVar	rs199422254
Map	rs199422254
PheGenI	rs199422254
Biobank	rs199422254
1000 genomes	rs199422254
hgdp	rs199422254
ensembl	rs199422254
geneview	rs199422254
scholar	rs199422254
google	rs199422254
pharmgkb	rs199422254
gwascentral	rs199422254
openSNP	rs199422254
23andMe	rs199422254
SNPshot	rs199422254
SNPdbe	rs199422254
MSV3d	rs199422254
GWAS Ctlg	rs199422254

Max Magnitude

0

ClinVar
Risk	rs199422254(T;T)
Alt	rs199422254(T;T)
Reference	Rs199422254(C;C)
Significance	Pathogenic
Disease	Dyskeratosis congenita X-linked not provided
Variation	info
Gene	SNORA56 DKC1
CLNDBN	Dyskeratosis congenita X-linked not provided
Reversed	0
HGVS	NC_000023.10:g.154002944C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032192.1, RCV000255428.1,