rs74315306

Orientation

minus

Stabilized

minus

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

Make rs74315306(A;T)

Make rs74315306(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

150806191

Gene

CTSK

is a	snp
is	mentioned by
dbSNP	rs74315306
dbSNP (classic)	rs74315306
ClinGen	rs74315306
ebi	rs74315306
HLI	rs74315306
Exac	rs74315306
Gnomad	rs74315306
Varsome	rs74315306
LitVar	rs74315306
Map	rs74315306
PheGenI	rs74315306
Biobank	rs74315306
1000 genomes	rs74315306
hgdp	rs74315306
ensembl	rs74315306
geneview	rs74315306
scholar	rs74315306
google	rs74315306
pharmgkb	rs74315306
gwascentral	rs74315306
openSNP	rs74315306
23andMe	rs74315306
SNPshot	rs74315306
SNPdbe	rs74315306
MSV3d	rs74315306
GWAS Ctlg	rs74315306

Max Magnitude

0

OMIM	601105
Desc
Variant	0006
Related	also

ClinVar
Risk	rs74315306(T;T)
Alt	rs74315306(T;T)
Reference	Rs74315306(A;A)
Significance	Pathogenic
Disease	Pyknodysostosis
Variation	info
Gene	CTSK
CLNDBN	Pyknodysostosis
Reversed	1
HGVS	NC_000001.10:g.150778667T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008936.5,