rs1057519588

Orientation

minus

Stabilized

minus

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

Make rs1057519588(A;A)

Make rs1057519588(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

89955555

Gene

NBN

is a	snp
is	mentioned by
dbSNP	rs1057519588
dbSNP (classic)	rs1057519588
ClinGen	rs1057519588
ebi	rs1057519588
HLI	rs1057519588
Exac	rs1057519588
Gnomad	rs1057519588
Varsome	rs1057519588
LitVar	rs1057519588
Map	rs1057519588
PheGenI	rs1057519588
Biobank	rs1057519588
1000 genomes	rs1057519588
hgdp	rs1057519588
ensembl	rs1057519588
geneview	rs1057519588
scholar	rs1057519588
google	rs1057519588
pharmgkb	rs1057519588
gwascentral	rs1057519588
openSNP	rs1057519588
23andMe	rs1057519588
SNPshot	rs1057519588
SNPdbe	rs1057519588
MSV3d	rs1057519588
GWAS Ctlg	rs1057519588

Max Magnitude

0

ClinVar
Risk	rs1057519588(A;A)
Alt	rs1057519588(A;A)
Reference	Rs1057519588(G;G)
Significance	Pathogenic
Disease	Microcephaly
Variation	info
Gene	NBN
CLNDBN	Microcephaly, normal intelligence and immunodeficiency
Reversed	1
HGVS	NC_000008.10:g.90967783C>T
CLNSRC
CLNACC	RCV000417077.1,