rs1057517365

Orientation

plus

Stabilized

plus

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

Make rs1057517365(A;A)

Make rs1057517365(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

68048883

Gene

TCIRG1

is a	snp
is	mentioned by
dbSNP	rs1057517365
dbSNP (classic)	rs1057517365
ClinGen	rs1057517365
ebi	rs1057517365
HLI	rs1057517365
Exac	rs1057517365
Gnomad	rs1057517365
Varsome	rs1057517365
LitVar	rs1057517365
Map	rs1057517365
PheGenI	rs1057517365
Biobank	rs1057517365
1000 genomes	rs1057517365
hgdp	rs1057517365
ensembl	rs1057517365
geneview	rs1057517365
scholar	rs1057517365
google	rs1057517365
pharmgkb	rs1057517365
gwascentral	rs1057517365
openSNP	rs1057517365
23andMe	rs1057517365
SNPshot	rs1057517365
SNPdbe	rs1057517365
MSV3d	rs1057517365
GWAS Ctlg	rs1057517365

Max Magnitude

0

ClinVar
Risk	rs1057517365(A;A)
Alt	rs1057517365(A;A)
Reference	Rs1057517365(G;G)
Significance	Probable-Pathogenic
Disease	Osteopetrosis autosomal recessive 1
Variation	info
Gene	TCIRG1
CLNDBN	Osteopetrosis autosomal recessive 1
Reversed	0
HGVS	NC_000011.9:g.67816350G>A
CLNSRC
CLNACC	RCV000410207.1,