rs1057517104

Orientation

minus

Stabilized

minus

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

Make rs1057517104(A;A)

Make rs1057517104(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

89971172

Gene

NBN

is a	snp
is	mentioned by
dbSNP	rs1057517104
dbSNP (classic)	rs1057517104
ClinGen	rs1057517104
ebi	rs1057517104
HLI	rs1057517104
Exac	rs1057517104
Gnomad	rs1057517104
Varsome	rs1057517104
LitVar	rs1057517104
Map	rs1057517104
PheGenI	rs1057517104
Biobank	rs1057517104
1000 genomes	rs1057517104
hgdp	rs1057517104
ensembl	rs1057517104
geneview	rs1057517104
scholar	rs1057517104
google	rs1057517104
pharmgkb	rs1057517104
gwascentral	rs1057517104
openSNP	rs1057517104
23andMe	rs1057517104
SNPshot	rs1057517104
SNPdbe	rs1057517104
MSV3d	rs1057517104
GWAS Ctlg	rs1057517104

Max Magnitude

0

ClinVar
Risk	rs1057517104(A;A) rs1057517104(T;T)
Alt	rs1057517104(A;A) rs1057517104(T;T)
Reference	Rs1057517104(G;G)
Significance	Pathogenic
Disease	not provided Microcephaly
Variation	info
Gene	NBN
CLNDBN	not provided Microcephaly, normal intelligence and immunodeficiency
Reversed	1
HGVS	NC_000008.10:g.90983400C>A; NC_000008.10:g.90983400C>T
CLNSRC
CLNACC	RCV000481637.1, RCV000411476.1,