rs199422252

Orientation

plus

Stabilized

plus

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

Make rs199422252(A;A)

Make rs199422252(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154774602

Gene	DKC1, SNORA56

is a	snp
is	mentioned by
dbSNP	rs199422252
dbSNP (classic)	rs199422252
ClinGen	rs199422252
ebi	rs199422252
HLI	rs199422252
Exac	rs199422252
Gnomad	rs199422252
Varsome	rs199422252
LitVar	rs199422252
Map	rs199422252
PheGenI	rs199422252
Biobank	rs199422252
1000 genomes	rs199422252
hgdp	rs199422252
ensembl	rs199422252
geneview	rs199422252
scholar	rs199422252
google	rs199422252
pharmgkb	rs199422252
gwascentral	rs199422252
openSNP	rs199422252
23andMe	rs199422252
SNPshot	rs199422252
SNPdbe	rs199422252
MSV3d	rs199422252
GWAS Ctlg	rs199422252

Max Magnitude

0

ClinVar
Risk	rs199422252(A;A)
Alt	rs199422252(A;A)
Reference	Rs199422252(G;G)
Significance	Pathogenic
Disease	Dyskeratosis congenita X-linked
Variation	info
Gene	DKC1 SNORA56
CLNDBN	Dyskeratosis congenita X-linked
Reversed	0
HGVS	NC_000023.10:g.154002877G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032187.1,