rs137853149

Orientation

plus

Stabilized

plus

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

Make rs137853149(A;A)

Make rs137853149(A;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68047733

Gene

TCIRG1

is a	snp
is	mentioned by
dbSNP	rs137853149
dbSNP (classic)	rs137853149
ClinGen	rs137853149
ebi	rs137853149
HLI	rs137853149
Exac	rs137853149
Gnomad	rs137853149
Varsome	rs137853149
LitVar	rs137853149
Map	rs137853149
PheGenI	rs137853149
Biobank	rs137853149
1000 genomes	rs137853149
hgdp	rs137853149
ensembl	rs137853149
geneview	rs137853149
scholar	rs137853149
google	rs137853149
pharmgkb	rs137853149
gwascentral	rs137853149
openSNP	rs137853149
23andMe	rs137853149
SNPshot	rs137853149
SNPdbe	rs137853149
MSV3d	rs137853149
GWAS Ctlg	rs137853149

Max Magnitude

0

OMIM	604592
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137853149(A;A)
Alt	rs137853149(A;A)
Reference	Rs137853149(C;C)
Significance	Pathogenic
Disease	Osteopetrosis autosomal recessive 1
Variation	info
Gene	TCIRG1
CLNDBN	Osteopetrosis autosomal recessive 1
Reversed	0
HGVS	NC_000011.9:g.67815200C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005793.2,