rs121434434

Orientation

minus

Stabilized

minus

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

Make rs121434434(C;C)

Make rs121434434(C;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

1447040

Gene

CLCN7

is a	snp
is	mentioned by
dbSNP	rs121434434
dbSNP (classic)	rs121434434
ClinGen	rs121434434
ebi	rs121434434
HLI	rs121434434
Exac	rs121434434
Gnomad	rs121434434
Varsome	rs121434434
LitVar	rs121434434
Map	rs121434434
PheGenI	rs121434434
Biobank	rs121434434
1000 genomes	rs121434434
hgdp	rs121434434
ensembl	rs121434434
geneview	rs121434434
scholar	rs121434434
google	rs121434434
pharmgkb	rs121434434
gwascentral	rs121434434
openSNP	rs121434434
23andMe	rs121434434
SNPshot	rs121434434
SNPdbe	rs121434434
MSV3d	rs121434434
GWAS Ctlg	rs121434434

Max Magnitude

0

OMIM	602727
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121434434(C;C)
Alt	rs121434434(C;C)
Reference	Rs121434434(T;T)
Significance	Pathogenic
Disease	Osteopetrosis autosomal recessive 4
Variation	info
Gene	CLCN7
CLNDBN	Osteopetrosis autosomal recessive 4
Reversed	1
HGVS	NC_000016.9:g.1497041A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007265.3,