rs74315302

Orientation

minus

Stabilized

minus

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

Make rs74315302(C;C)

Make rs74315302(C;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

150804203

Gene

CTSK

is a	snp
is	mentioned by
dbSNP	rs74315302
dbSNP (classic)	rs74315302
ClinGen	rs74315302
ebi	rs74315302
HLI	rs74315302
Exac	rs74315302
Gnomad	rs74315302
Varsome	rs74315302
LitVar	rs74315302
Map	rs74315302
PheGenI	rs74315302
Biobank	rs74315302
1000 genomes	rs74315302
hgdp	rs74315302
ensembl	rs74315302
geneview	rs74315302
scholar	rs74315302
google	rs74315302
pharmgkb	rs74315302
gwascentral	rs74315302
openSNP	rs74315302
23andMe	rs74315302
SNPshot	rs74315302
SNPdbe	rs74315302
MSV3d	rs74315302
GWAS Ctlg	rs74315302

Max Magnitude

0

OMIM	601105
Desc
Variant	0002
Related	also

ClinVar
Risk	rs74315302(C;C)
Alt	rs74315302(C;C)
Reference	Rs74315302(G;G)
Significance	Pathogenic
Disease	Pyknodysostosis
Variation	info
Gene	CTSK
CLNDBN	Pyknodysostosis
Reversed	1
HGVS	NC_000001.10:g.150776679C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008932.3,