rs74315301

Orientation

minus

Stabilized

minus

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

Make rs74315301(A;G)

Make rs74315301(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

150796799

Gene

CTSK

is a	snp
is	mentioned by
dbSNP	rs74315301
dbSNP (classic)	rs74315301
ClinGen	rs74315301
ebi	rs74315301
HLI	rs74315301
Exac	rs74315301
Gnomad	rs74315301
Varsome	rs74315301
LitVar	rs74315301
Map	rs74315301
PheGenI	rs74315301
Biobank	rs74315301
1000 genomes	rs74315301
hgdp	rs74315301
ensembl	rs74315301
geneview	rs74315301
scholar	rs74315301
google	rs74315301
pharmgkb	rs74315301
gwascentral	rs74315301
openSNP	rs74315301
23andMe	rs74315301
SNPshot	rs74315301
SNPdbe	rs74315301
MSV3d	rs74315301
GWAS Ctlg	rs74315301

Max Magnitude

0

OMIM	601105
Desc
Variant	0001
Related	also

ClinVar
Risk	rs74315301(G;G)
Alt	rs74315301(G;G)
Reference	Rs74315301(A;A)
Significance	Pathogenic
Disease	Pyknodysostosis
Variation	info
Gene	CTSK
CLNDBN	Pyknodysostosis
Reversed	1
HGVS	NC_000001.10:g.150769275T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008931.2,