rs121918543

Orientation

minus

Stabilized

minus

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

Make rs121918543(A;G)

Make rs121918543(G;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

24240642

Gene

TINF2

is a	snp
is	mentioned by
dbSNP	rs121918543
dbSNP (classic)	rs121918543
ClinGen	rs121918543
ebi	rs121918543
HLI	rs121918543
Exac	rs121918543
Gnomad	rs121918543
Varsome	rs121918543
LitVar	rs121918543
Map	rs121918543
PheGenI	rs121918543
Biobank	rs121918543
1000 genomes	rs121918543
hgdp	rs121918543
ensembl	rs121918543
geneview	rs121918543
scholar	rs121918543
google	rs121918543
pharmgkb	rs121918543
gwascentral	rs121918543
openSNP	rs121918543
23andMe	rs121918543
SNPshot	rs121918543
SNPdbe	rs121918543
MSV3d	rs121918543
GWAS Ctlg	rs121918543

Max Magnitude

0

OMIM	604319
Desc
Variant	0001
Related	also

OMIM	127550
Desc
Variant
Related	also

ClinVar
Risk	rs121918543(G;G) rs121918543(T;T)
Alt	rs121918543(G;G) rs121918543(T;T)
Reference	Rs121918543(A;A)
Significance	Pathogenic
Disease	Dyskeratosis congenita autosomal dominant Dyskeratosis congenita
Variation	info
Gene	TINF2
CLNDBN	Dyskeratosis congenita autosomal dominant Dyskeratosis congenita, autosomal dominant, 3
Reversed	1
HGVS	NC_000014.8:g.24709848T>A; NC_000014.8:g.24709848T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032166.1, RCV000005977.3, RCV000032165.1,