rs1057516839

Orientation

minus

Stabilized

minus

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

Make rs1057516839(-;-)

Make rs1057516839(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

150805859

Gene

CTSK

is a	snp
is	mentioned by
dbSNP	rs1057516839
dbSNP (classic)	rs1057516839
ClinGen	rs1057516839
ebi	rs1057516839
HLI	rs1057516839
Exac	rs1057516839
Gnomad	rs1057516839
Varsome	rs1057516839
LitVar	rs1057516839
Map	rs1057516839
PheGenI	rs1057516839
Biobank	rs1057516839
1000 genomes	rs1057516839
hgdp	rs1057516839
ensembl	rs1057516839
geneview	rs1057516839
scholar	rs1057516839
google	rs1057516839
pharmgkb	rs1057516839
gwascentral	rs1057516839
openSNP	rs1057516839
23andMe	rs1057516839
SNPshot	rs1057516839
SNPdbe	rs1057516839
MSV3d	rs1057516839
GWAS Ctlg	rs1057516839

Max Magnitude

0

ClinVar
Risk	rs1057516839(-;-)
Alt	rs1057516839(-;-)
Reference	Rs1057516839(T;T)
Significance	Probable-Pathogenic
Disease	Pyknodysostosis
Variation	info
Gene	CTSK
CLNDBN	Pyknodysostosis
Reversed	1
HGVS	NC_000001.10:g.150778335delA
CLNSRC
CLNACC	RCV000411145.1,