rs1057517279

Orientation

minus

Stabilized

minus

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

Make rs1057517279(A;A)

Make rs1057517279(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

150806685

Gene

CTSK

is a	snp
is	mentioned by
dbSNP	rs1057517279
dbSNP (classic)	rs1057517279
ClinGen	rs1057517279
ebi	rs1057517279
HLI	rs1057517279
Exac	rs1057517279
Gnomad	rs1057517279
Varsome	rs1057517279
LitVar	rs1057517279
Map	rs1057517279
PheGenI	rs1057517279
Biobank	rs1057517279
1000 genomes	rs1057517279
hgdp	rs1057517279
ensembl	rs1057517279
geneview	rs1057517279
scholar	rs1057517279
google	rs1057517279
pharmgkb	rs1057517279
gwascentral	rs1057517279
openSNP	rs1057517279
23andMe	rs1057517279
SNPshot	rs1057517279
SNPdbe	rs1057517279
MSV3d	rs1057517279
GWAS Ctlg	rs1057517279

Max Magnitude

0

ClinVar
Risk	rs1057517279(A;A)
Alt	rs1057517279(A;A)
Reference	Rs1057517279(G;G)
Significance	Probable-Pathogenic
Disease	Pyknodysostosis
Variation	info
Gene	CTSK
CLNDBN	Pyknodysostosis
Reversed	1
HGVS	NC_000001.10:g.150779161C>T
CLNSRC
CLNACC	RCV000410647.1,