rs1060503481

Orientation

minus

Stabilized

minus

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

Make rs1060503481(-;-)

Make rs1060503481(-;AAAAA)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

89953438

Gene

NBN

is a	snp
is	mentioned by
dbSNP	rs1060503481
dbSNP (classic)	rs1060503481
ClinGen	rs1060503481
ebi	rs1060503481
HLI	rs1060503481
Exac	rs1060503481
Gnomad	rs1060503481
Varsome	rs1060503481
LitVar	rs1060503481
Map	rs1060503481
PheGenI	rs1060503481
Biobank	rs1060503481
1000 genomes	rs1060503481
hgdp	rs1060503481
ensembl	rs1060503481
geneview	rs1060503481
scholar	rs1060503481
google	rs1060503481
pharmgkb	rs1060503481
gwascentral	rs1060503481
openSNP	rs1060503481
23andMe	rs1060503481
SNPshot	rs1060503481
SNPdbe	rs1060503481
MSV3d	rs1060503481
GWAS Ctlg	rs1060503481

Max Magnitude

0

ClinVar
Risk	rs1060503481(-;-)
Alt	rs1060503481(-;-)
Reference	Rs1060503481(AAAAA;AAAAA)
Significance	Pathogenic
Disease	Microcephaly
Variation	info
Gene	NBN
CLNDBN	Microcephaly, normal intelligence and immunodeficiency
Reversed	1
HGVS	NC_000008.10:g.90965666_90965670delTTTTT
CLNSRC
CLNACC	RCV000458733.1,