rs1057516668

Orientation

minus

Stabilized

minus

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

Make rs1057516668(-;-)

Make rs1057516668(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

89946236

Gene

NBN

is a	snp
is	mentioned by
dbSNP	rs1057516668
dbSNP (classic)	rs1057516668
ClinGen	rs1057516668
ebi	rs1057516668
HLI	rs1057516668
Exac	rs1057516668
Gnomad	rs1057516668
Varsome	rs1057516668
LitVar	rs1057516668
Map	rs1057516668
PheGenI	rs1057516668
Biobank	rs1057516668
1000 genomes	rs1057516668
hgdp	rs1057516668
ensembl	rs1057516668
geneview	rs1057516668
scholar	rs1057516668
google	rs1057516668
pharmgkb	rs1057516668
gwascentral	rs1057516668
openSNP	rs1057516668
23andMe	rs1057516668
SNPshot	rs1057516668
SNPdbe	rs1057516668
MSV3d	rs1057516668
GWAS Ctlg	rs1057516668

Max Magnitude

0

ClinVar
Risk	rs1057516668(-;-)
Alt	rs1057516668(-;-)
Reference	Rs1057516668(A;A)
Significance	Probable-Pathogenic
Disease	Microcephaly
Variation	info
Gene	NBN
CLNDBN	Microcephaly, normal intelligence and immunodeficiency
Reversed	1
HGVS	NC_000008.10:g.90958464delT
CLNSRC
CLNACC	RCV000411916.1,