rs1057517252

Orientation

minus

Stabilized

minus

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

Make rs1057517252(C;C)

Make rs1057517252(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

150806780

Gene

CTSK

is a	snp
is	mentioned by
dbSNP	rs1057517252
dbSNP (classic)	rs1057517252
ClinGen	rs1057517252
ebi	rs1057517252
HLI	rs1057517252
Exac	rs1057517252
Gnomad	rs1057517252
Varsome	rs1057517252
LitVar	rs1057517252
Map	rs1057517252
PheGenI	rs1057517252
Biobank	rs1057517252
1000 genomes	rs1057517252
hgdp	rs1057517252
ensembl	rs1057517252
geneview	rs1057517252
scholar	rs1057517252
google	rs1057517252
pharmgkb	rs1057517252
gwascentral	rs1057517252
openSNP	rs1057517252
23andMe	rs1057517252
SNPshot	rs1057517252
SNPdbe	rs1057517252
MSV3d	rs1057517252
GWAS Ctlg	rs1057517252

Max Magnitude

0

ClinVar
Risk	rs1057517252(C;C)
Alt	rs1057517252(C;C)
Reference	Rs1057517252(T;T)
Significance	Probable-Pathogenic
Disease	Pyknodysostosis
Variation	info
Gene	CTSK
CLNDBN	Pyknodysostosis
Reversed	1
HGVS	NC_000001.10:g.150779256A>G
CLNSRC
CLNACC	RCV000409305.1,