rs121434218

Orientation

plus

Stabilized

plus

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

Make rs121434218(C;C)

Make rs121434218(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

108333925

Gene	ATM, C11orf65

is a	snp
is	mentioned by
dbSNP	rs121434218
dbSNP (classic)	rs121434218
ClinGen	rs121434218
ebi	rs121434218
HLI	rs121434218
Exac	rs121434218
Gnomad	rs121434218
Varsome	rs121434218
LitVar	rs121434218
Map	rs121434218
PheGenI	rs121434218
Biobank	rs121434218
1000 genomes	rs121434218
hgdp	rs121434218
ensembl	rs121434218
geneview	rs121434218
scholar	rs121434218
google	rs121434218
pharmgkb	rs121434218
gwascentral	rs121434218
openSNP	rs121434218
23andMe	rs121434218
SNPshot	rs121434218
SNPdbe	rs121434218
MSV3d	rs121434218
GWAS Ctlg	rs121434218

Max Magnitude

0

OMIM	607585
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121434218(C;C)
Alt	rs121434218(C;C)
Reference	Rs121434218(T;T)
Significance	Pathogenic
Disease	Ataxia-telangiectasia without immunodeficiency
Variation	info
Gene	C11orf65 ATM
CLNDBN	Ataxia-telangiectasia without immunodeficiency
Reversed	0
HGVS	NC_000011.9:g.108204652T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003167.3,