rs1060503466

Orientation

minus

Stabilized

minus

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

Make rs1060503466(-;-)

Make rs1060503466(-;TGAA)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

89947881

Gene

NBN

is a	snp
is	mentioned by
dbSNP	rs1060503466
dbSNP (classic)	rs1060503466
ClinGen	rs1060503466
ebi	rs1060503466
HLI	rs1060503466
Exac	rs1060503466
Gnomad	rs1060503466
Varsome	rs1060503466
LitVar	rs1060503466
Map	rs1060503466
PheGenI	rs1060503466
Biobank	rs1060503466
1000 genomes	rs1060503466
hgdp	rs1060503466
ensembl	rs1060503466
geneview	rs1060503466
scholar	rs1060503466
google	rs1060503466
pharmgkb	rs1060503466
gwascentral	rs1060503466
openSNP	rs1060503466
23andMe	rs1060503466
SNPshot	rs1060503466
SNPdbe	rs1060503466
MSV3d	rs1060503466
GWAS Ctlg	rs1060503466

Max Magnitude

0

ClinVar
Risk	rs1060503466(-;-)
Alt	rs1060503466(-;-)
Reference	Rs1060503466(TGAA;TGAA)
Significance	Pathogenic
Disease	Microcephaly
Variation	info
Gene	NBN
CLNDBN	Microcephaly, normal intelligence and immunodeficiency
Reversed	1
HGVS	NC_000008.10:g.90960109_90960112delTTCA
CLNSRC
CLNACC	RCV000475546.1,