rs199422245

Orientation

plus

Stabilized

plus

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

Make rs199422245(A;A)

Make rs199422245(A;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154765939

Gene

DKC1

is a	snp
is	mentioned by
dbSNP	rs199422245
ClinGen	rs199422245
ebi	rs199422245
HLI	rs199422245
Exac	rs199422245
Varsome	rs199422245
Map	rs199422245
PheGenI	rs199422245
hapmap	rs199422245
1000 genomes	rs199422245
hgdp	rs199422245
ensembl	rs199422245
gopubmed	rs199422245
geneview	rs199422245
scholar	rs199422245
google	rs199422245
pharmgkb	rs199422245
gwascentral	rs199422245
openSNP	rs199422245
23andMe	rs199422245
23andMe all	rs199422245
SNP Nexus
SNPshot	rs199422245
SNPdbe	rs199422245
MSV3d	rs199422245
GWAS Ctlg	rs199422245

Max Magnitude

0

ClinVar
Risk	rs199422245(A;A)
Alt	rs199422245(A;A)
Reference	Rs199422245(C;C)
Significance	Pathogenic
Disease	Dyskeratosis congenita X-linked
Variation	info
Gene	DKC1
CLNDBN	Dyskeratosis congenita X-linked
Reversed	0
HGVS	NC_000023.10:g.153994214C>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032199.1,