rs74315303

Orientation

minus

Stabilized

minus

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

Make rs74315303(C;T)

Make rs74315303(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

150799607

Gene

CTSK

is a	snp
is	mentioned by
dbSNP	rs74315303
dbSNP (classic)	rs74315303
ClinGen	rs74315303
ebi	rs74315303
HLI	rs74315303
Exac	rs74315303
Gnomad	rs74315303
Varsome	rs74315303
LitVar	rs74315303
Map	rs74315303
PheGenI	rs74315303
Biobank	rs74315303
1000 genomes	rs74315303
hgdp	rs74315303
ensembl	rs74315303
geneview	rs74315303
scholar	rs74315303
google	rs74315303
pharmgkb	rs74315303
gwascentral	rs74315303
openSNP	rs74315303
23andMe	rs74315303
SNPshot	rs74315303
SNPdbe	rs74315303
MSV3d	rs74315303
GWAS Ctlg	rs74315303

Max Magnitude

0

OMIM	601105
Desc
Variant	0003
Related	also

ClinVar
Risk	rs74315303(A;A) rs74315303(T;T)
Alt	rs74315303(A;A) rs74315303(T;T)
Reference	Rs74315303(C;C)
Significance	Other
Disease	Pyknodysostosis
Variation	info
Gene	CTSK
CLNDBN	Pyknodysostosis
Reversed	1
HGVS	NC_000001.10:g.150772083G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008933.5,