rs1057516611

Orientation

minus

Stabilized

minus

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

Make rs1057516611(-;-)

Make rs1057516611(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

89947890

Gene

NBN

is a	snp
is	mentioned by
dbSNP	rs1057516611
dbSNP (classic)	rs1057516611
ClinGen	rs1057516611
ebi	rs1057516611
HLI	rs1057516611
Exac	rs1057516611
Gnomad	rs1057516611
Varsome	rs1057516611
LitVar	rs1057516611
Map	rs1057516611
PheGenI	rs1057516611
Biobank	rs1057516611
1000 genomes	rs1057516611
hgdp	rs1057516611
ensembl	rs1057516611
geneview	rs1057516611
scholar	rs1057516611
google	rs1057516611
pharmgkb	rs1057516611
gwascentral	rs1057516611
openSNP	rs1057516611
23andMe	rs1057516611
SNPshot	rs1057516611
SNPdbe	rs1057516611
MSV3d	rs1057516611
GWAS Ctlg	rs1057516611

Max Magnitude

0

ClinVar
Risk	rs1057516611(-;-)
Alt	rs1057516611(-;-)
Reference	Rs1057516611(A;A)
Significance	Probable-Pathogenic
Disease	Microcephaly
Variation	info
Gene	NBN
CLNDBN	Microcephaly, normal intelligence and immunodeficiency
Reversed	1
HGVS	NC_000008.10:g.90960118delT
CLNSRC
CLNACC	RCV000411194.1,