rs864309670

Orientation

minus

Stabilized

minus

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

Make rs864309670(-;GG)

Make rs864309670(GG;GG)

Reference

GRCh38.p2 38.2/146

Chromosome

8

Position

89970517

Gene

NBN

is a	snp
is	mentioned by
dbSNP	rs864309670
dbSNP (classic)	rs864309670
ClinGen	rs864309670
ebi	rs864309670
HLI	rs864309670
Exac	rs864309670
Gnomad	rs864309670
Varsome	rs864309670
LitVar	rs864309670
Map	rs864309670
PheGenI	rs864309670
Biobank	rs864309670
1000 genomes	rs864309670
hgdp	rs864309670
ensembl	rs864309670
geneview	rs864309670
scholar	rs864309670
google	rs864309670
pharmgkb	rs864309670
gwascentral	rs864309670
openSNP	rs864309670
23andMe	rs864309670
SNPshot	rs864309670
SNPdbe	rs864309670
MSV3d	rs864309670
GWAS Ctlg	rs864309670

Max Magnitude

0

ClinVar
Risk	rs864309670(GG;GG)
Alt	rs864309670(GG;GG)
Reference	Rs864309670(-;-)
Significance	Pathogenic
Disease	Microcephaly
Variation	info
Gene	NBN
CLNDBN	Microcephaly, normal intelligence and immunodeficiency
Reversed	1
HGVS	NC_000008.10:g.90982746_90982747dupCC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007364.4,