rs1057516320

Orientation

minus

Stabilized

minus

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

Make rs1057516320(C;T)

Make rs1057516320(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

89981430

Gene

NBN

is a	snp
is	mentioned by
dbSNP	rs1057516320
dbSNP (classic)	rs1057516320
ClinGen	rs1057516320
ebi	rs1057516320
HLI	rs1057516320
Exac	rs1057516320
Gnomad	rs1057516320
Varsome	rs1057516320
LitVar	rs1057516320
Map	rs1057516320
PheGenI	rs1057516320
Biobank	rs1057516320
1000 genomes	rs1057516320
hgdp	rs1057516320
ensembl	rs1057516320
geneview	rs1057516320
scholar	rs1057516320
google	rs1057516320
pharmgkb	rs1057516320
gwascentral	rs1057516320
openSNP	rs1057516320
23andMe	rs1057516320
SNPshot	rs1057516320
SNPdbe	rs1057516320
MSV3d	rs1057516320
GWAS Ctlg	rs1057516320

Max Magnitude

0

ClinVar
Risk	rs1057516320(T;T)
Alt	rs1057516320(T;T)
Reference	Rs1057516320(C;C)
Significance	Probable-Pathogenic
Disease	Microcephaly
Variation	info
Gene	NBN
CLNDBN	Microcephaly, normal intelligence and immunodeficiency
Reversed	1
HGVS	NC_000008.10:g.90993658G>A
CLNSRC
CLNACC	RCV000410234.1,