rs1057516852

Orientation

minus

Stabilized

minus

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

Make rs1057516852(-;-)

Make rs1057516852(-;CT)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

89946209

Gene

NBN

is a	snp
is	mentioned by
dbSNP	rs1057516852
dbSNP (classic)	rs1057516852
ClinGen	rs1057516852
ebi	rs1057516852
HLI	rs1057516852
Exac	rs1057516852
Gnomad	rs1057516852
Varsome	rs1057516852
LitVar	rs1057516852
Map	rs1057516852
PheGenI	rs1057516852
Biobank	rs1057516852
1000 genomes	rs1057516852
hgdp	rs1057516852
ensembl	rs1057516852
geneview	rs1057516852
scholar	rs1057516852
google	rs1057516852
pharmgkb	rs1057516852
gwascentral	rs1057516852
openSNP	rs1057516852
23andMe	rs1057516852
SNPshot	rs1057516852
SNPdbe	rs1057516852
MSV3d	rs1057516852
GWAS Ctlg	rs1057516852

Max Magnitude

0

ClinVar
Risk	rs1057516852(-;-)
Alt	rs1057516852(-;-)
Reference	Rs1057516852(CT;CT)
Significance	Probable-Pathogenic
Disease	Microcephaly
Variation	info
Gene	NBN
CLNDBN	Microcephaly, normal intelligence and immunodeficiency
Reversed	1
HGVS	NC_000008.10:g.90958437_90958438delAG
CLNSRC
CLNACC	RCV000410892.1,