rs74315304

Orientation

minus

Stabilized

minus

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

Make rs74315304(C;T)

Make rs74315304(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

150799228

Gene

CTSK

is a	snp
is	mentioned by
dbSNP	rs74315304
dbSNP (classic)	rs74315304
ClinGen	rs74315304
ebi	rs74315304
HLI	rs74315304
Exac	rs74315304
Gnomad	rs74315304
Varsome	rs74315304
LitVar	rs74315304
Map	rs74315304
PheGenI	rs74315304
Biobank	rs74315304
1000 genomes	rs74315304
hgdp	rs74315304
ensembl	rs74315304
geneview	rs74315304
scholar	rs74315304
google	rs74315304
pharmgkb	rs74315304
gwascentral	rs74315304
openSNP	rs74315304
23andMe	rs74315304
SNPshot	rs74315304
SNPdbe	rs74315304
MSV3d	rs74315304
GWAS Ctlg	rs74315304

Max Magnitude

0

OMIM	601105
Desc
Variant	0004
Related	also

ClinVar
Risk	rs74315304(T;T)
Alt	rs74315304(T;T)
Reference	Rs74315304(C;C)
Significance	Other
Disease	Pyknodysostosis
Variation	info
Gene	CTSK
CLNDBN	Pyknodysostosis
Reversed	1
HGVS	NC_000001.10:g.150771704G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008934.5,