rs1057516725

Orientation

minus

Stabilized

minus

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

Make rs1057516725(-;A)

Make rs1057516725(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

150805864

Gene

CTSK

is a	snp
is	mentioned by
dbSNP	rs1057516725
dbSNP (classic)	rs1057516725
ClinGen	rs1057516725
ebi	rs1057516725
HLI	rs1057516725
Exac	rs1057516725
Gnomad	rs1057516725
Varsome	rs1057516725
LitVar	rs1057516725
Map	rs1057516725
PheGenI	rs1057516725
Biobank	rs1057516725
1000 genomes	rs1057516725
hgdp	rs1057516725
ensembl	rs1057516725
geneview	rs1057516725
scholar	rs1057516725
google	rs1057516725
pharmgkb	rs1057516725
gwascentral	rs1057516725
openSNP	rs1057516725
23andMe	rs1057516725
SNPshot	rs1057516725
SNPdbe	rs1057516725
MSV3d	rs1057516725
GWAS Ctlg	rs1057516725

Max Magnitude

0

ClinVar
Risk	rs1057516725(A;A)
Alt	rs1057516725(A;A)
Reference	Rs1057516725(-;-)
Significance	Probable-Pathogenic
Disease	Pyknodysostosis
Variation	info
Gene	CTSK
CLNDBN	Pyknodysostosis
Reversed	1
HGVS	NC_000001.10:g.150778341dupT
CLNSRC
CLNACC	RCV000412028.1,