rs1057517102

Orientation

minus

Stabilized

minus

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

Make rs1057517102(A;A)

Make rs1057517102(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

89955556

Gene

NBN

is a	snp
is	mentioned by
dbSNP	rs1057517102
dbSNP (classic)	rs1057517102
ClinGen	rs1057517102
ebi	rs1057517102
HLI	rs1057517102
Exac	rs1057517102
Gnomad	rs1057517102
Varsome	rs1057517102
LitVar	rs1057517102
Map	rs1057517102
PheGenI	rs1057517102
Biobank	rs1057517102
1000 genomes	rs1057517102
hgdp	rs1057517102
ensembl	rs1057517102
geneview	rs1057517102
scholar	rs1057517102
google	rs1057517102
pharmgkb	rs1057517102
gwascentral	rs1057517102
openSNP	rs1057517102
23andMe	rs1057517102
SNPshot	rs1057517102
SNPdbe	rs1057517102
MSV3d	rs1057517102
GWAS Ctlg	rs1057517102

Max Magnitude

0

ClinVar
Risk	rs1057517102(A;A)
Alt	rs1057517102(A;A)
Reference	Rs1057517102(G;G)
Significance	Probable-Pathogenic
Disease	Microcephaly
Variation	info
Gene	NBN
CLNDBN	Microcephaly, normal intelligence and immunodeficiency
Reversed	1
HGVS	NC_000008.10:g.90967784C>T
CLNSRC
CLNACC	RCV000412152.1,