rs1057517075

Orientation

minus

Stabilized

minus

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

Make rs1057517075(-;-)

Make rs1057517075(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

89946138

Gene

NBN

is a	snp
is	mentioned by
dbSNP	rs1057517075
dbSNP (classic)	rs1057517075
ClinGen	rs1057517075
ebi	rs1057517075
HLI	rs1057517075
Exac	rs1057517075
Gnomad	rs1057517075
Varsome	rs1057517075
LitVar	rs1057517075
Map	rs1057517075
PheGenI	rs1057517075
Biobank	rs1057517075
1000 genomes	rs1057517075
hgdp	rs1057517075
ensembl	rs1057517075
geneview	rs1057517075
scholar	rs1057517075
google	rs1057517075
pharmgkb	rs1057517075
gwascentral	rs1057517075
openSNP	rs1057517075
23andMe	rs1057517075
SNPshot	rs1057517075
SNPdbe	rs1057517075
MSV3d	rs1057517075
GWAS Ctlg	rs1057517075

Max Magnitude

0

ClinVar
Risk	rs1057517075(-;-)
Alt	rs1057517075(-;-)
Reference	Rs1057517075(T;T)
Significance	Probable-Pathogenic
Disease	Microcephaly
Variation	info
Gene	NBN
CLNDBN	Microcephaly, normal intelligence and immunodeficiency
Reversed	1
HGVS	NC_000008.10:g.90958366delA
CLNSRC
CLNACC	RCV000410827.1,