rs1060503485

Orientation

minus

Stabilized

minus

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

Make rs1060503485(-;-)

Make rs1060503485(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

89984536

Gene

NBN

is a	snp
is	mentioned by
dbSNP	rs1060503485
dbSNP (classic)	rs1060503485
ClinGen	rs1060503485
ebi	rs1060503485
HLI	rs1060503485
Exac	rs1060503485
Gnomad	rs1060503485
Varsome	rs1060503485
LitVar	rs1060503485
Map	rs1060503485
PheGenI	rs1060503485
Biobank	rs1060503485
1000 genomes	rs1060503485
hgdp	rs1060503485
ensembl	rs1060503485
geneview	rs1060503485
scholar	rs1060503485
google	rs1060503485
pharmgkb	rs1060503485
gwascentral	rs1060503485
openSNP	rs1060503485
23andMe	rs1060503485
SNPshot	rs1060503485
SNPdbe	rs1060503485
MSV3d	rs1060503485
GWAS Ctlg	rs1060503485

Max Magnitude

0

ClinVar
Risk	rs1060503485(-;-)
Alt	rs1060503485(-;-)
Reference	Rs1060503485(G;G)
Significance	Pathogenic
Disease	Microcephaly
Variation	info
Gene	NBN
CLNDBN	Microcephaly, normal intelligence and immunodeficiency
Reversed	1
HGVS	NC_000008.10:g.90996764delC
CLNSRC
CLNACC	RCV000458518.1,