rs1057516587

Orientation

minus

Stabilized

minus

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

Make rs1057516587(A;G)

Make rs1057516587(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

150806226

Gene

CTSK

is a	snp
is	mentioned by
dbSNP	rs1057516587
dbSNP (classic)	rs1057516587
ClinGen	rs1057516587
ebi	rs1057516587
HLI	rs1057516587
Exac	rs1057516587
Gnomad	rs1057516587
Varsome	rs1057516587
LitVar	rs1057516587
Map	rs1057516587
PheGenI	rs1057516587
Biobank	rs1057516587
1000 genomes	rs1057516587
hgdp	rs1057516587
ensembl	rs1057516587
geneview	rs1057516587
scholar	rs1057516587
google	rs1057516587
pharmgkb	rs1057516587
gwascentral	rs1057516587
openSNP	rs1057516587
23andMe	rs1057516587
SNPshot	rs1057516587
SNPdbe	rs1057516587
MSV3d	rs1057516587
GWAS Ctlg	rs1057516587

Max Magnitude

0

ClinVar
Risk	rs1057516587(G;G)
Alt	rs1057516587(G;G)
Reference	Rs1057516587(A;A)
Significance	Probable-Pathogenic
Disease	Pyknodysostosis
Variation	info
Gene	CTSK
CLNDBN	Pyknodysostosis
Reversed	1
HGVS	NC_000001.10:g.150778702T>C
CLNSRC
CLNACC	RCV000410588.1,