rs199422318

Orientation

minus

Stabilized

minus

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

Make rs199422318(AG;AG)

Make rs199422318(AG;CC)

Reference

GRCh38 38.1/141

Chromosome

14

Position

24240614

Gene

TINF2

is a	snp
is	mentioned by
dbSNP	rs199422318
dbSNP (classic)	rs199422318
ClinGen	rs199422318
ebi	rs199422318
HLI	rs199422318
Exac	rs199422318
Gnomad	rs199422318
Varsome	rs199422318
LitVar	rs199422318
Map	rs199422318
PheGenI	rs199422318
Biobank	rs199422318
1000 genomes	rs199422318
hgdp	rs199422318
ensembl	rs199422318
geneview	rs199422318
scholar	rs199422318
google	rs199422318
pharmgkb	rs199422318
gwascentral	rs199422318
openSNP	rs199422318
23andMe	rs199422318
SNPshot	rs199422318
SNPdbe	rs199422318
MSV3d	rs199422318
GWAS Ctlg	rs199422318

Max Magnitude

0

ClinVar
Risk	rs199422318(AG;AG)
Alt	rs199422318(AG;AG)
Reference	Rs199422318(CC;CC)
Significance	Pathogenic
Disease	Dyskeratosis congenita autosomal dominant
Variation	info
Gene	TINF2
CLNDBN	Dyskeratosis congenita autosomal dominant
Reversed	1
HGVS	NC_000014.8:g.24709820_24709821delGGinsCT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032177.1,