rs587781718

Orientation

minus

Stabilized

minus

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

Make rs587781718(-;-)

Make rs587781718(-;AA)

Reference

GRCh38.p2 38.2/144

Chromosome

8

Position

89982804

Gene

NBN

is a	snp
is	mentioned by
dbSNP	rs587781718
dbSNP (classic)	rs587781718
ClinGen	rs587781718
ebi	rs587781718
HLI	rs587781718
Exac	rs587781718
Gnomad	rs587781718
Varsome	rs587781718
LitVar	rs587781718
Map	rs587781718
PheGenI	rs587781718
Biobank	rs587781718
1000 genomes	rs587781718
hgdp	rs587781718
ensembl	rs587781718
geneview	rs587781718
scholar	rs587781718
google	rs587781718
pharmgkb	rs587781718
gwascentral	rs587781718
openSNP	rs587781718
23andMe	rs587781718
SNPshot	rs587781718
SNPdbe	rs587781718
MSV3d	rs587781718
GWAS Ctlg	rs587781718

Max Magnitude

0

ClinVar
Risk	rs587781718(-;-)
Alt	rs587781718(-;-)
Reference	Rs587781718(AA;AA)
Significance	Pathogenic
Disease	Hereditary cancer-predisposing syndrome Microcephaly
Variation	info
Gene	NBN
CLNDBN	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency
Reversed	1
HGVS	NC_000008.10:g.90995032_90995033delTT
CLNSRC
CLNACC	RCV000129902.2, RCV000411130.1,