rs199422248

Orientation

plus

Stabilized

plus

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

Make rs199422248(A;G)

Make rs199422248(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154770784

Gene

DKC1

is a	snp
is	mentioned by
dbSNP	rs199422248
dbSNP (classic)	rs199422248
ClinGen	rs199422248
ebi	rs199422248
HLI	rs199422248
Exac	rs199422248
Gnomad	rs199422248
Varsome	rs199422248
LitVar	rs199422248
Map	rs199422248
PheGenI	rs199422248
Biobank	rs199422248
1000 genomes	rs199422248
hgdp	rs199422248
ensembl	rs199422248
geneview	rs199422248
scholar	rs199422248
google	rs199422248
pharmgkb	rs199422248
gwascentral	rs199422248
openSNP	rs199422248
23andMe	rs199422248
SNPshot	rs199422248
SNPdbe	rs199422248
MSV3d	rs199422248
GWAS Ctlg	rs199422248

Max Magnitude

0

ClinVar
Risk	rs199422248(G;G)
Alt	rs199422248(G;G)
Reference	Rs199422248(A;A)
Significance	Pathogenic
Disease	Dyskeratosis congenita X-linked
Variation	info
Gene	DKC1
CLNDBN	Dyskeratosis congenita X-linked
Reversed	0
HGVS	NC_000023.10:g.153999059A>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032206.1,