rs1057519586

Orientation

minus

Stabilized

minus

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

Make rs1057519586(-;-)

Make rs1057519586(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

89971194

Gene

NBN

is a	snp
is	mentioned by
dbSNP	rs1057519586
dbSNP (classic)	rs1057519586
ClinGen	rs1057519586
ebi	rs1057519586
HLI	rs1057519586
Exac	rs1057519586
Gnomad	rs1057519586
Varsome	rs1057519586
LitVar	rs1057519586
Map	rs1057519586
PheGenI	rs1057519586
Biobank	rs1057519586
1000 genomes	rs1057519586
hgdp	rs1057519586
ensembl	rs1057519586
geneview	rs1057519586
scholar	rs1057519586
google	rs1057519586
pharmgkb	rs1057519586
gwascentral	rs1057519586
openSNP	rs1057519586
23andMe	rs1057519586
SNPshot	rs1057519586
SNPdbe	rs1057519586
MSV3d	rs1057519586
GWAS Ctlg	rs1057519586

Max Magnitude

0

ClinVar
Risk	rs1057519586(-;-)
Alt	rs1057519586(-;-)
Reference	Rs1057519586(T;T)
Significance	Pathogenic
Disease	Microcephaly
Variation	info
Gene	NBN
CLNDBN	Microcephaly, normal intelligence and immunodeficiency
Reversed	1
HGVS	NC_000008.10:g.90983422delA
CLNSRC
CLNACC	RCV000417079.1,