rs1060503463

Orientation

minus

Stabilized

minus

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

Make rs1060503463(G;G)

Make rs1060503463(G;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

89980831

Gene

NBN

is a	snp
is	mentioned by
dbSNP	rs1060503463
dbSNP (classic)	rs1060503463
ClinGen	rs1060503463
ebi	rs1060503463
HLI	rs1060503463
Exac	rs1060503463
Gnomad	rs1060503463
Varsome	rs1060503463
LitVar	rs1060503463
Map	rs1060503463
PheGenI	rs1060503463
Biobank	rs1060503463
1000 genomes	rs1060503463
hgdp	rs1060503463
ensembl	rs1060503463
geneview	rs1060503463
scholar	rs1060503463
google	rs1060503463
pharmgkb	rs1060503463
gwascentral	rs1060503463
openSNP	rs1060503463
23andMe	rs1060503463
SNPshot	rs1060503463
SNPdbe	rs1060503463
MSV3d	rs1060503463
GWAS Ctlg	rs1060503463

Max Magnitude

0

ClinVar
Risk	rs1060503463(G;G)
Alt	rs1060503463(G;G)
Reference	Rs1060503463(T;T)
Significance	Pathogenic
Disease	Microcephaly
Variation	info
Gene	NBN
CLNDBN	Microcephaly, normal intelligence and immunodeficiency
Reversed	1
HGVS	NC_000008.10:g.90993059A>C
CLNSRC
CLNACC	RCV000467395.1,