rs1057517209

Orientation

minus

Stabilized

minus

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

Make rs1057517209(A;A)

Make rs1057517209(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

89958724

Gene

NBN

is a	snp
is	mentioned by
dbSNP	rs1057517209
dbSNP (classic)	rs1057517209
ClinGen	rs1057517209
ebi	rs1057517209
HLI	rs1057517209
Exac	rs1057517209
Gnomad	rs1057517209
Varsome	rs1057517209
LitVar	rs1057517209
Map	rs1057517209
PheGenI	rs1057517209
Biobank	rs1057517209
1000 genomes	rs1057517209
hgdp	rs1057517209
ensembl	rs1057517209
geneview	rs1057517209
scholar	rs1057517209
google	rs1057517209
pharmgkb	rs1057517209
gwascentral	rs1057517209
openSNP	rs1057517209
23andMe	rs1057517209
SNPshot	rs1057517209
SNPdbe	rs1057517209
MSV3d	rs1057517209
GWAS Ctlg	rs1057517209

Max Magnitude

0

ClinVar
Risk	rs1057517209(A;A)
Alt	rs1057517209(A;A)
Reference	Rs1057517209(G;G)
Significance	Probable-Pathogenic
Disease	Microcephaly
Variation	info
Gene	NBN
CLNDBN	Microcephaly, normal intelligence and immunodeficiency
Reversed	1
HGVS	NC_000008.10:g.90970952C>T
CLNSRC
CLNACC	RCV000410092.1,