rs199422253

Orientation

plus

Stabilized

plus

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

Make rs199422253(C;C)

Make rs199422253(C;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154774639

Gene	DKC1, SNORA56

is a	snp
is	mentioned by
dbSNP	rs199422253
dbSNP (classic)	rs199422253
ClinGen	rs199422253
ebi	rs199422253
HLI	rs199422253
Exac	rs199422253
Gnomad	rs199422253
Varsome	rs199422253
LitVar	rs199422253
Map	rs199422253
PheGenI	rs199422253
Biobank	rs199422253
1000 genomes	rs199422253
hgdp	rs199422253
ensembl	rs199422253
geneview	rs199422253
scholar	rs199422253
google	rs199422253
pharmgkb	rs199422253
gwascentral	rs199422253
openSNP	rs199422253
23andMe	rs199422253
SNPshot	rs199422253
SNPdbe	rs199422253
MSV3d	rs199422253
GWAS Ctlg	rs199422253

Max Magnitude

0

ClinVar
Risk	rs199422253(C;C)
Alt	rs199422253(C;C)
Reference	Rs199422253(T;T)
Significance	Pathogenic
Disease	Dyskeratosis congenita X-linked
Variation	info
Gene	DKC1 SNORA56
CLNDBN	Dyskeratosis congenita X-linked
Reversed	0
HGVS	NC_000023.10:g.154002914T>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032189.1,