rs1057516321

Orientation

minus

Stabilized

minus

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

Make rs1057516321(A;A)

Make rs1057516321(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

89982721

Gene

NBN

is a	snp
is	mentioned by
dbSNP	rs1057516321
dbSNP (classic)	rs1057516321
ClinGen	rs1057516321
ebi	rs1057516321
HLI	rs1057516321
Exac	rs1057516321
Gnomad	rs1057516321
Varsome	rs1057516321
LitVar	rs1057516321
Map	rs1057516321
PheGenI	rs1057516321
Biobank	rs1057516321
1000 genomes	rs1057516321
hgdp	rs1057516321
ensembl	rs1057516321
geneview	rs1057516321
scholar	rs1057516321
google	rs1057516321
pharmgkb	rs1057516321
gwascentral	rs1057516321
openSNP	rs1057516321
23andMe	rs1057516321
SNPshot	rs1057516321
SNPdbe	rs1057516321
MSV3d	rs1057516321
GWAS Ctlg	rs1057516321

Max Magnitude

0

ClinVar
Risk	rs1057516321(A;A)
Alt	rs1057516321(A;A)
Reference	Rs1057516321(G;G)
Significance	Probable-Pathogenic
Disease	Microcephaly
Variation	info
Gene	NBN
CLNDBN	Microcephaly, normal intelligence and immunodeficiency
Reversed	1
HGVS	NC_000008.10:g.90994949C>T
CLNSRC
CLNACC	RCV000409002.1,