rs1057519587

Orientation

minus

Stabilized

minus

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

Make rs1057519587(-;-)

Make rs1057519587(-;AGGTCTTAGACCTATTCCTGAAGCA)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

89964480

Gene

NBN

is a	snp
is	mentioned by
dbSNP	rs1057519587
dbSNP (classic)	rs1057519587
ClinGen	rs1057519587
ebi	rs1057519587
HLI	rs1057519587
Exac	rs1057519587
Gnomad	rs1057519587
Varsome	rs1057519587
LitVar	rs1057519587
Map	rs1057519587
PheGenI	rs1057519587
Biobank	rs1057519587
1000 genomes	rs1057519587
hgdp	rs1057519587
ensembl	rs1057519587
geneview	rs1057519587
scholar	rs1057519587
google	rs1057519587
pharmgkb	rs1057519587
gwascentral	rs1057519587
openSNP	rs1057519587
23andMe	rs1057519587
SNPshot	rs1057519587
SNPdbe	rs1057519587
MSV3d	rs1057519587
GWAS Ctlg	rs1057519587

Max Magnitude

0

ClinVar
Risk	rs1057519587(-;-)
Alt	rs1057519587(-;-)
Reference	Rs1057519587(AGGTCTTAGACCTATTCCTGAAGCA;AGGTCTTAGACCTATTCCTGAAGCA)
Significance	Pathogenic
Disease	Microcephaly
Variation	info
Gene	NBN
CLNDBN	Microcephaly, normal intelligence and immunodeficiency
Reversed	1
HGVS	NC_000008.10:g.90976708_90976732del25
CLNSRC
CLNACC	RCV000417085.1,