rs121434435

Orientation

minus

Stabilized

minus

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

Make rs121434435(C;T)

Make rs121434435(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

1447038

Gene

CLCN7

is a	snp
is	mentioned by
dbSNP	rs121434435
dbSNP (classic)	rs121434435
ClinGen	rs121434435
ebi	rs121434435
HLI	rs121434435
Exac	rs121434435
Gnomad	rs121434435
Varsome	rs121434435
LitVar	rs121434435
Map	rs121434435
PheGenI	rs121434435
Biobank	rs121434435
1000 genomes	rs121434435
hgdp	rs121434435
ensembl	rs121434435
geneview	rs121434435
scholar	rs121434435
google	rs121434435
pharmgkb	rs121434435
gwascentral	rs121434435
openSNP	rs121434435
23andMe	rs121434435
SNPshot	rs121434435
SNPdbe	rs121434435
MSV3d	rs121434435
GWAS Ctlg	rs121434435

Max Magnitude

0

OMIM	602727
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121434435(T;T)
Alt	rs121434435(T;T)
Reference	Rs121434435(C;C)
Significance	Pathogenic
Disease	Osteopetrosis autosomal dominant type 2 Osteopetrosis autosomal recessive 4
Variation	info
Gene	CLCN7
CLNDBN	Osteopetrosis autosomal dominant type 2 Osteopetrosis autosomal recessive 4
Reversed	1
HGVS	NC_000016.9:g.1497039G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007266.2, RCV000055846.1,