rs28942103

Orientation

plus

Stabilized

plus

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

Make rs28942103(A;G)

Make rs28942103(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

108334988

Gene	ATM, C11orf65

is a	snp
is	mentioned by
dbSNP	rs28942103
dbSNP (classic)	rs28942103
ClinGen	rs28942103
ebi	rs28942103
HLI	rs28942103
Exac	rs28942103
Gnomad	rs28942103
Varsome	rs28942103
LitVar	rs28942103
Map	rs28942103
PheGenI	rs28942103
Biobank	rs28942103
1000 genomes	rs28942103
hgdp	rs28942103
ensembl	rs28942103
geneview	rs28942103
scholar	rs28942103
google	rs28942103
pharmgkb	rs28942103
gwascentral	rs28942103
openSNP	rs28942103
23andMe	rs28942103
SNPshot	rs28942103
SNPdbe	rs28942103
MSV3d	rs28942103
GWAS Ctlg	rs28942103

Max Magnitude

0

OMIM	607585
Desc	ATAXIA-TELANGIECTASIA VARIANT
Variant	0028
Related	also

OMIM	607585
Desc
Variant	0029
Related	also

ClinVar
Risk	rs28942103(G;G)
Alt	rs28942103(G;G)
Reference	Rs28942103(A;A)
Significance	Pathogenic
Disease	Ataxia-telangiectasia variant
Variation	info
Gene	C11orf65 ATM
CLNDBN	Ataxia-telangiectasia variant
Reversed	0
HGVS	NC_000011.9:g.108205715A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003186.6,