rs864622143

Orientation

minus

Stabilized

minus

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

Make rs864622143(C;T)

Make rs864622143(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

8

Position

89953342

Gene

NBN

is a	snp
is	mentioned by
dbSNP	rs864622143
dbSNP (classic)	rs864622143
ClinGen	rs864622143
ebi	rs864622143
HLI	rs864622143
Exac	rs864622143
Gnomad	rs864622143
Varsome	rs864622143
LitVar	rs864622143
Map	rs864622143
PheGenI	rs864622143
Biobank	rs864622143
1000 genomes	rs864622143
hgdp	rs864622143
ensembl	rs864622143
geneview	rs864622143
scholar	rs864622143
google	rs864622143
pharmgkb	rs864622143
gwascentral	rs864622143
openSNP	rs864622143
23andMe	rs864622143
SNPshot	rs864622143
SNPdbe	rs864622143
MSV3d	rs864622143
GWAS Ctlg	rs864622143

Max Magnitude

0

ClinVar
Risk	rs864622143(T;T)
Alt	rs864622143(T;T)
Reference	Rs864622143(C;C)
Significance	Pathogenic
Disease	Microcephaly Hereditary cancer-predisposing syndrome
Variation	info
Gene	NBN
CLNDBN	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000008.10:g.90965570G>A
CLNSRC
CLNACC	RCV000206506.1, RCV000217030.1,