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rs1057516587

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516587(A;G)
Make rs1057516587(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position150806226
GeneCTSK
is asnp
is mentioned by
dbSNPrs1057516587
dbSNP (old)rs1057516587
ClinGenrs1057516587
ebirs1057516587
HLIrs1057516587
Exacrs1057516587
Gnomadrs1057516587
Varsomers1057516587
Maprs1057516587
PheGenIrs1057516587
Biobankrs1057516587
1000 genomesrs1057516587
hgdprs1057516587
ensemblrs1057516587
gopubmedrs1057516587
geneviewrs1057516587
scholarrs1057516587
googlers1057516587
pharmgkbrs1057516587
gwascentralrs1057516587
openSNPrs1057516587
23andMers1057516587
23andMe allrs1057516587
SNPshotrs1057516587
SNPdbers1057516587
MSV3drs1057516587
GWAS Ctlgrs1057516587
Max Magnitude0
ClinVar
Risk rs1057516587(G;G)
Alt rs1057516587(G;G)
Reference Rs1057516587(A;A)
Significance Probable-Pathogenic
Disease Pyknodysostosis
Variation info
Gene CTSK
CLNDBN Pyknodysostosis
Reversed 1
HGVS NC_000001.10:g.150778702T>C
CLNSRC
CLNACC RCV000410588.1,