rs1057516790

Orientation

minus

Stabilized

minus

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

Make rs1057516790(-;-)

Make rs1057516790(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

150806758

Gene

CTSK

is a	snp
is	mentioned by
dbSNP	rs1057516790
dbSNP (classic)	rs1057516790
ClinGen	rs1057516790
ebi	rs1057516790
HLI	rs1057516790
Exac	rs1057516790
Gnomad	rs1057516790
Varsome	rs1057516790
LitVar	rs1057516790
Map	rs1057516790
PheGenI	rs1057516790
Biobank	rs1057516790
1000 genomes	rs1057516790
hgdp	rs1057516790
ensembl	rs1057516790
geneview	rs1057516790
scholar	rs1057516790
google	rs1057516790
pharmgkb	rs1057516790
gwascentral	rs1057516790
openSNP	rs1057516790
23andMe	rs1057516790
SNPshot	rs1057516790
SNPdbe	rs1057516790
MSV3d	rs1057516790
GWAS Ctlg	rs1057516790

Max Magnitude

0

ClinVar
Risk	rs1057516790(-;-)
Alt	rs1057516790(-;-)
Reference	Rs1057516790(G;G)
Significance	Probable-Pathogenic
Disease	Pyknodysostosis
Variation	info
Gene	CTSK
CLNDBN	Pyknodysostosis
Reversed	1
HGVS	NC_000001.10:g.150779234delC
CLNSRC
CLNACC	RCV000412289.1,