rs199422250

Orientation

plus

Stabilized

plus

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

Make rs199422250(C;T)

Make rs199422250(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154773244

Gene	DKC1, SNORA56

is a	snp
is	mentioned by
dbSNP	rs199422250
dbSNP (classic)	rs199422250
ClinGen	rs199422250
ebi	rs199422250
HLI	rs199422250
Exac	rs199422250
Gnomad	rs199422250
Varsome	rs199422250
LitVar	rs199422250
Map	rs199422250
PheGenI	rs199422250
Biobank	rs199422250
1000 genomes	rs199422250
hgdp	rs199422250
ensembl	rs199422250
geneview	rs199422250
scholar	rs199422250
google	rs199422250
pharmgkb	rs199422250
gwascentral	rs199422250
openSNP	rs199422250
23andMe	rs199422250
SNPshot	rs199422250
SNPdbe	rs199422250
MSV3d	rs199422250
GWAS Ctlg	rs199422250

Max Magnitude

0

ClinVar
Risk	rs199422250(T;T)
Alt	rs199422250(T;T)
Reference	Rs199422250(C;C)
Significance	Pathogenic
Disease	Dyskeratosis congenita X-linked
Variation	info
Gene	DKC1 SNORA56
CLNDBN	Dyskeratosis congenita X-linked
Reversed	0
HGVS	NC_000023.10:g.154001519C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032185.1,