rs1060503480

Orientation

minus

Stabilized

minus

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

Make rs1060503480(C;G)

Make rs1060503480(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

89953536

Gene

NBN

is a	snp
is	mentioned by
dbSNP	rs1060503480
dbSNP (classic)	rs1060503480
ClinGen	rs1060503480
ebi	rs1060503480
HLI	rs1060503480
Exac	rs1060503480
Gnomad	rs1060503480
Varsome	rs1060503480
LitVar	rs1060503480
Map	rs1060503480
PheGenI	rs1060503480
Biobank	rs1060503480
1000 genomes	rs1060503480
hgdp	rs1060503480
ensembl	rs1060503480
geneview	rs1060503480
scholar	rs1060503480
google	rs1060503480
pharmgkb	rs1060503480
gwascentral	rs1060503480
openSNP	rs1060503480
23andMe	rs1060503480
SNPshot	rs1060503480
SNPdbe	rs1060503480
MSV3d	rs1060503480
GWAS Ctlg	rs1060503480

Max Magnitude

0

ClinVar
Risk	rs1060503480(G;G)
Alt	rs1060503480(G;G)
Reference	Rs1060503480(C;C)
Significance	Pathogenic
Disease	Microcephaly
Variation	info
Gene	NBN
CLNDBN	Microcephaly, normal intelligence and immunodeficiency
Reversed	1
HGVS	NC_000008.10:g.90965764G>C
CLNSRC
CLNACC	RCV000473949.1,