rs1057516514

Orientation

minus

Stabilized

minus

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

Make rs1057516514(-;-)

Make rs1057516514(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

150804213

Gene

CTSK

is a	snp
is	mentioned by
dbSNP	rs1057516514
dbSNP (classic)	rs1057516514
ClinGen	rs1057516514
ebi	rs1057516514
HLI	rs1057516514
Exac	rs1057516514
Gnomad	rs1057516514
Varsome	rs1057516514
LitVar	rs1057516514
Map	rs1057516514
PheGenI	rs1057516514
Biobank	rs1057516514
1000 genomes	rs1057516514
hgdp	rs1057516514
ensembl	rs1057516514
geneview	rs1057516514
scholar	rs1057516514
google	rs1057516514
pharmgkb	rs1057516514
gwascentral	rs1057516514
openSNP	rs1057516514
23andMe	rs1057516514
SNPshot	rs1057516514
SNPdbe	rs1057516514
MSV3d	rs1057516514
GWAS Ctlg	rs1057516514

Max Magnitude

0

ClinVar
Risk	rs1057516514(-;-)
Alt	rs1057516514(-;-)
Reference	Rs1057516514(T;T)
Significance	Probable-Pathogenic
Disease	Pyknodysostosis
Variation	info
Gene	CTSK
CLNDBN	Pyknodysostosis
Reversed	1
HGVS	NC_000001.10:g.150776689delA
CLNSRC
CLNACC	RCV000409792.1,