rs1057517262

Orientation

minus

Stabilized

minus

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

Make rs1057517262(A;A)

Make rs1057517262(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

89937076

Gene

NBN

is a	snp
is	mentioned by
dbSNP	rs1057517262
dbSNP (classic)	rs1057517262
ClinGen	rs1057517262
ebi	rs1057517262
HLI	rs1057517262
Exac	rs1057517262
Gnomad	rs1057517262
Varsome	rs1057517262
LitVar	rs1057517262
Map	rs1057517262
PheGenI	rs1057517262
Biobank	rs1057517262
1000 genomes	rs1057517262
hgdp	rs1057517262
ensembl	rs1057517262
geneview	rs1057517262
scholar	rs1057517262
google	rs1057517262
pharmgkb	rs1057517262
gwascentral	rs1057517262
openSNP	rs1057517262
23andMe	rs1057517262
SNPshot	rs1057517262
SNPdbe	rs1057517262
MSV3d	rs1057517262
GWAS Ctlg	rs1057517262

Max Magnitude

0

ClinVar
Risk	rs1057517262(A;A)
Alt	rs1057517262(A;A)
Reference	Rs1057517262(G;G)
Significance	Probable-Pathogenic
Disease	Microcephaly
Variation	info
Gene	NBN
CLNDBN	Microcephaly, normal intelligence and immunodeficiency
Reversed	1
HGVS	NC_000008.10:g.90949304C>T
CLNSRC
CLNACC	RCV000409942.1,