rs587781969

Orientation

minus

Stabilized

minus

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

Make rs587781969(-;-)

Make rs587781969(-;C)

Reference

GRCh38.p2 38.2/144

Chromosome

8

Position

89955538

Gene

NBN

is a	snp
is	mentioned by
dbSNP	rs587781969
dbSNP (classic)	rs587781969
ClinGen	rs587781969
ebi	rs587781969
HLI	rs587781969
Exac	rs587781969
Gnomad	rs587781969
Varsome	rs587781969
LitVar	rs587781969
Map	rs587781969
PheGenI	rs587781969
Biobank	rs587781969
1000 genomes	rs587781969
hgdp	rs587781969
ensembl	rs587781969
geneview	rs587781969
scholar	rs587781969
google	rs587781969
pharmgkb	rs587781969
gwascentral	rs587781969
openSNP	rs587781969
23andMe	rs587781969
SNPshot	rs587781969
SNPdbe	rs587781969
MSV3d	rs587781969
GWAS Ctlg	rs587781969

Max Magnitude

0

ClinVar
Risk	rs587781969(-;-)
Alt	rs587781969(-;-)
Reference	Rs587781969(C;C)
Significance	Pathogenic
Disease	Microcephaly Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	NBN
CLNDBN	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000008.10:g.90967766delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007358.6, RCV000130355.3, RCV000220768.2,