rs121434432

Orientation

minus

Stabilized

minus

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

Make rs121434432(C;T)

Make rs121434432(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

1449282

Gene

CLCN7

is a	snp
is	mentioned by
dbSNP	rs121434432
dbSNP (classic)	rs121434432
ClinGen	rs121434432
ebi	rs121434432
HLI	rs121434432
Exac	rs121434432
Gnomad	rs121434432
Varsome	rs121434432
LitVar	rs121434432
Map	rs121434432
PheGenI	rs121434432
Biobank	rs121434432
1000 genomes	rs121434432
hgdp	rs121434432
ensembl	rs121434432
geneview	rs121434432
scholar	rs121434432
google	rs121434432
pharmgkb	rs121434432
gwascentral	rs121434432
openSNP	rs121434432
23andMe	rs121434432
SNPshot	rs121434432
SNPdbe	rs121434432
MSV3d	rs121434432
GWAS Ctlg	rs121434432

Max Magnitude

0

OMIM	602727
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434432(T;T)
Alt	rs121434432(T;T)
Reference	Rs121434432(C;C)
Significance	Pathogenic
Disease	Osteopetrosis autosomal recessive 4
Variation	info
Gene	CLCN7
CLNDBN	Osteopetrosis autosomal recessive 4
Reversed	1
HGVS	NC_000016.9:g.1499283G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007263.3,