rs1057516392

Orientation

minus

Stabilized

minus

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

Make rs1057516392(-;A)

Make rs1057516392(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

89981516

Gene

NBN

is a	snp
is	mentioned by
dbSNP	rs1057516392
dbSNP (classic)	rs1057516392
ClinGen	rs1057516392
ebi	rs1057516392
HLI	rs1057516392
Exac	rs1057516392
Gnomad	rs1057516392
Varsome	rs1057516392
LitVar	rs1057516392
Map	rs1057516392
PheGenI	rs1057516392
Biobank	rs1057516392
1000 genomes	rs1057516392
hgdp	rs1057516392
ensembl	rs1057516392
geneview	rs1057516392
scholar	rs1057516392
google	rs1057516392
pharmgkb	rs1057516392
gwascentral	rs1057516392
openSNP	rs1057516392
23andMe	rs1057516392
SNPshot	rs1057516392
SNPdbe	rs1057516392
MSV3d	rs1057516392
GWAS Ctlg	rs1057516392

Max Magnitude

0

ClinVar
Risk	rs1057516392(A;A)
Alt	rs1057516392(A;A)
Reference	Rs1057516392(-;-)
Significance	Probable-Pathogenic
Disease	Microcephaly
Variation	info
Gene	NBN
CLNDBN	Microcephaly, normal intelligence and immunodeficiency
Reversed	1
HGVS	NC_000008.10:g.90993745dupT
CLNSRC
CLNACC	RCV000412330.1,