rs1057516772

Orientation

minus

Stabilized

minus

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

Make rs1057516772(-;-)

Make rs1057516772(-;ACCAACCTGGTA)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

89982719

Gene

NBN

is a	snp
is	mentioned by
dbSNP	rs1057516772
dbSNP (classic)	rs1057516772
ClinGen	rs1057516772
ebi	rs1057516772
HLI	rs1057516772
Exac	rs1057516772
Gnomad	rs1057516772
Varsome	rs1057516772
LitVar	rs1057516772
Map	rs1057516772
PheGenI	rs1057516772
Biobank	rs1057516772
1000 genomes	rs1057516772
hgdp	rs1057516772
ensembl	rs1057516772
geneview	rs1057516772
scholar	rs1057516772
google	rs1057516772
pharmgkb	rs1057516772
gwascentral	rs1057516772
openSNP	rs1057516772
23andMe	rs1057516772
SNPshot	rs1057516772
SNPdbe	rs1057516772
MSV3d	rs1057516772
GWAS Ctlg	rs1057516772

Max Magnitude

0

ClinVar
Risk	rs1057516772(-;-)
Alt	rs1057516772(-;-)
Reference	Rs1057516772(ACCAACCTGGTA;ACCAACCTGGTA)
Significance	Probable-Pathogenic
Disease	Microcephaly
Variation	info
Gene	NBN
CLNDBN	Microcephaly, normal intelligence and immunodeficiency
Reversed	1
HGVS	NC_000008.10:g.90994947_90994958delTACCAGGTTGGT
CLNSRC
CLNACC	RCV000409755.1,