rs398123011

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	5.8	Osteopetrosis, type 8
(A;G)	3	Carrier of a pathogenic mutation for osteopetrosis
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

7

Position

26364575

Gene

SNX10

is a	snp
is	mentioned by
dbSNP	rs398123011
dbSNP (classic)	rs398123011
ClinGen	rs398123011
ebi	rs398123011
HLI	rs398123011
Exac	rs398123011
Gnomad	rs398123011
Varsome	rs398123011
LitVar	rs398123011
Map	rs398123011
PheGenI	rs398123011
Biobank	rs398123011
1000 genomes	rs398123011
hgdp	rs398123011
ensembl	rs398123011
geneview	rs398123011
scholar	rs398123011
google	rs398123011
pharmgkb	rs398123011
gwascentral	rs398123011
openSNP	rs398123011
23andMe	rs398123011
SNPshot	rs398123011
SNPdbe	rs398123011
MSV3d	rs398123011
GWAS Ctlg	rs398123011

Max Magnitude

5.8

SNX10 gene, c.152G>A (p.Arg51Gln)

rs398123011(A) is considered a recessively inherited mutation pathogenic for osteopetrosis, type 8.

ClinVar
Risk	Rs398123011(A;A)
Alt	Rs398123011(A;A)
Reference	Rs398123011(G;G)
Significance	Pathogenic
Disease	Osteopetrosis
Variation	info
Gene	SNX10
CLNDBN	Osteopetrosis, autosomal recessive 8
Reversed	0
HGVS	NC_000007.13:g.26404195G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000033149.2,