rs1057519585

Orientation

minus

Stabilized

minus

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

Make rs1057519585(G;G)

Make rs1057519585(G;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

89980884

Gene

NBN

is a	snp
is	mentioned by
dbSNP	rs1057519585
dbSNP (classic)	rs1057519585
ClinGen	rs1057519585
ebi	rs1057519585
HLI	rs1057519585
Exac	rs1057519585
Gnomad	rs1057519585
Varsome	rs1057519585
LitVar	rs1057519585
Map	rs1057519585
PheGenI	rs1057519585
Biobank	rs1057519585
1000 genomes	rs1057519585
hgdp	rs1057519585
ensembl	rs1057519585
geneview	rs1057519585
scholar	rs1057519585
google	rs1057519585
pharmgkb	rs1057519585
gwascentral	rs1057519585
openSNP	rs1057519585
23andMe	rs1057519585
SNPshot	rs1057519585
SNPdbe	rs1057519585
MSV3d	rs1057519585
GWAS Ctlg	rs1057519585

Max Magnitude

0

ClinVar
Risk	rs1057519585(G;G)
Alt	rs1057519585(G;G)
Reference	Rs1057519585(T;T)
Significance	Pathogenic
Disease	Microcephaly
Variation	info
Gene	NBN
CLNDBN	Microcephaly, normal intelligence and immunodeficiency
Reversed	1
HGVS	NC_000008.10:g.90993112A>C
CLNSRC
CLNACC	RCV000417080.1,