rs121918545

Orientation

minus

Stabilized

minus

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

Make rs121918545(A;A)

Make rs121918545(A;C)

Reference

GRCh38 38.1/141

Chromosome

14

Position

24240636

Gene

TINF2

is a	snp
is	mentioned by
dbSNP	rs121918545
dbSNP (classic)	rs121918545
ClinGen	rs121918545
ebi	rs121918545
HLI	rs121918545
Exac	rs121918545
Gnomad	rs121918545
Varsome	rs121918545
LitVar	rs121918545
Map	rs121918545
PheGenI	rs121918545
Biobank	rs121918545
1000 genomes	rs121918545
hgdp	rs121918545
ensembl	rs121918545
geneview	rs121918545
scholar	rs121918545
google	rs121918545
pharmgkb	rs121918545
gwascentral	rs121918545
openSNP	rs121918545
23andMe	rs121918545
SNPshot	rs121918545
SNPdbe	rs121918545
MSV3d	rs121918545
GWAS Ctlg	rs121918545

Max Magnitude

0

OMIM	604319
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121918545(A;A) rs121918545(T;T)
Alt	rs121918545(A;A) rs121918545(T;T)
Reference	Rs121918545(C;C)
Significance	Pathogenic
Disease	Dyskeratosis congenita Dyskeratosis congenita autosomal dominant not provided
Variation	info
Gene	TINF2
CLNDBN	Dyskeratosis congenita, autosomal dominant, 3 Dyskeratosis congenita autosomal dominant not provided
Reversed	1
HGVS	NC_000014.8:g.24709842G>A; NC_000014.8:g.24709842G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005981.3, RCV000032169.1, RCV000434257.1, RCV000005980.3, RCV000032168.1,