rs119460973

Orientation

minus

Stabilized

minus

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

Make rs119460973(A;A)

Make rs119460973(A;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

108074616

Gene

OSTM1

is a	snp
is	mentioned by
dbSNP	rs119460973
dbSNP (classic)	rs119460973
ClinGen	rs119460973
ebi	rs119460973
HLI	rs119460973
Exac	rs119460973
Gnomad	rs119460973
Varsome	rs119460973
LitVar	rs119460973
Map	rs119460973
PheGenI	rs119460973
Biobank	rs119460973
1000 genomes	rs119460973
hgdp	rs119460973
ensembl	rs119460973
geneview	rs119460973
scholar	rs119460973
google	rs119460973
pharmgkb	rs119460973
gwascentral	rs119460973
openSNP	rs119460973
23andMe	rs119460973
SNPshot	rs119460973
SNPdbe	rs119460973
MSV3d	rs119460973
GWAS Ctlg	rs119460973

Max Magnitude

0

OMIM	607649
Desc
Variant	0003
Related	also

ClinVar
Risk	rs119460973(A;A)
Alt	rs119460973(A;A)
Reference	Rs119460973(T;T)
Significance	Pathogenic
Disease	Osteopetrosis
Variation	info
Gene	OSTM1
CLNDBN	Osteopetrosis, autosomal recessive 5
Reversed	1
HGVS	NC_000006.11:g.108395820A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003078.2,