rs1057516627

Orientation

minus

Stabilized

minus

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

Make rs1057516627(-;-)

Make rs1057516627(-;TTTTAGCTCTGTGGGTGCCCTGGAGGGC)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

150804189

Gene

CTSK

is a	snp
is	mentioned by
dbSNP	rs1057516627
dbSNP (classic)	rs1057516627
ClinGen	rs1057516627
ebi	rs1057516627
HLI	rs1057516627
Exac	rs1057516627
Gnomad	rs1057516627
Varsome	rs1057516627
LitVar	rs1057516627
Map	rs1057516627
PheGenI	rs1057516627
Biobank	rs1057516627
1000 genomes	rs1057516627
hgdp	rs1057516627
ensembl	rs1057516627
geneview	rs1057516627
scholar	rs1057516627
google	rs1057516627
pharmgkb	rs1057516627
gwascentral	rs1057516627
openSNP	rs1057516627
23andMe	rs1057516627
SNPshot	rs1057516627
SNPdbe	rs1057516627
MSV3d	rs1057516627
GWAS Ctlg	rs1057516627

Max Magnitude

0

ClinVar
Risk	rs1057516627(-;-)
Alt	rs1057516627(-;-)
Reference	Rs1057516627(TTTTAGCTCTGTGGGTGCCCTGGAGGGC;TTTTAGCTCTGTGGGTGCCCTGGAGGGC)
Significance	Probable-Pathogenic
Disease	Pyknodysostosis
Variation	info
Gene	CTSK
CLNDBN	Pyknodysostosis
Reversed	1
HGVS	NC_000001.10:g.150776665_150776692del28
CLNSRC
CLNACC	RCV000411707.1,