rs587780100

Orientation

minus

Stabilized

minus

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

Make rs587780100(-;-)

Make rs587780100(-;AACA)

Reference

GRCh38.p2 38.2/144

Chromosome

8

Position

89971174

Gene

NBN

is a	snp
is	mentioned by
dbSNP	rs587780100
dbSNP (classic)	rs587780100
ClinGen	rs587780100
ebi	rs587780100
HLI	rs587780100
Exac	rs587780100
Gnomad	rs587780100
Varsome	rs587780100
LitVar	rs587780100
Map	rs587780100
PheGenI	rs587780100
Biobank	rs587780100
1000 genomes	rs587780100
hgdp	rs587780100
ensembl	rs587780100
geneview	rs587780100
scholar	rs587780100
google	rs587780100
pharmgkb	rs587780100
gwascentral	rs587780100
openSNP	rs587780100
23andMe	rs587780100
SNPshot	rs587780100
SNPdbe	rs587780100
MSV3d	rs587780100
GWAS Ctlg	rs587780100

Max Magnitude

0

ClinVar
Risk	rs587780100(-;-)
Alt	rs587780100(-;-)
Reference	Rs587780100(AACA;AACA)
Significance	Pathogenic
Disease	Hereditary cancer-predisposing syndrome Microcephaly not provided
Variation	info
Gene	NBN
CLNDBN	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not provided
Reversed	1
HGVS	NC_000008.10:g.90983402_90983405delTGTT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000115804.5, RCV000193543.5, RCV000212735.1,