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rs1057516514

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516514(-;-)
Make rs1057516514(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position150804213
GeneCTSK
is asnp
is mentioned by
dbSNPrs1057516514
dbSNP (old)rs1057516514
ClinGenrs1057516514
ebirs1057516514
HLIrs1057516514
Exacrs1057516514
Gnomadrs1057516514
Varsomers1057516514
Maprs1057516514
PheGenIrs1057516514
Biobankrs1057516514
1000 genomesrs1057516514
hgdprs1057516514
ensemblrs1057516514
gopubmedrs1057516514
geneviewrs1057516514
scholarrs1057516514
googlers1057516514
pharmgkbrs1057516514
gwascentralrs1057516514
openSNPrs1057516514
23andMers1057516514
23andMe allrs1057516514
SNPshotrs1057516514
SNPdbers1057516514
MSV3drs1057516514
GWAS Ctlgrs1057516514
Max Magnitude0
ClinVar
Risk rs1057516514(-;-)
Alt rs1057516514(-;-)
Reference Rs1057516514(T;T)
Significance Probable-Pathogenic
Disease Pyknodysostosis
Variation info
Gene CTSK
CLNDBN Pyknodysostosis
Reversed 1
HGVS NC_000001.10:g.150776689delA
CLNSRC
CLNACC RCV000409792.1,