rs863223324

Orientation

minus

Stabilized

minus

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

Make rs863223324(-;-)

Make rs863223324(-;A)

Reference

GRCh38.p2 38.2/146

Chromosome

14

Position

24240654

Gene

TINF2

is a	snp
is	mentioned by
dbSNP	rs863223324
dbSNP (classic)	rs863223324
ClinGen	rs863223324
ebi	rs863223324
HLI	rs863223324
Exac	rs863223324
Gnomad	rs863223324
Varsome	rs863223324
LitVar	rs863223324
Map	rs863223324
PheGenI	rs863223324
Biobank	rs863223324
1000 genomes	rs863223324
hgdp	rs863223324
ensembl	rs863223324
geneview	rs863223324
scholar	rs863223324
google	rs863223324
pharmgkb	rs863223324
gwascentral	rs863223324
openSNP	rs863223324
23andMe	rs863223324
SNPshot	rs863223324
SNPdbe	rs863223324
MSV3d	rs863223324
GWAS Ctlg	rs863223324

Max Magnitude

0

ClinVar
Risk	rs863223324(-;-)
Alt	rs863223324(-;-)
Reference	Rs863223324(A;A)
Significance	Pathogenic
Disease	Dyskeratosis congenita
Variation	info
Gene	TINF2
CLNDBN	Dyskeratosis congenita, autosomal dominant, 3
Reversed	1
HGVS	NC_000014.8:g.24709860delT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000030737.4,