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rs1057517279

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517279(A;A)
Make rs1057517279(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position150806685
GeneCTSK
is asnp
is mentioned by
dbSNPrs1057517279
dbSNP (classic)rs1057517279
ClinGenrs1057517279
ebirs1057517279
HLIrs1057517279
Exacrs1057517279
Gnomadrs1057517279
Varsomers1057517279
LitVarrs1057517279
Maprs1057517279
PheGenIrs1057517279
Biobankrs1057517279
1000 genomesrs1057517279
hgdprs1057517279
ensemblrs1057517279
geneviewrs1057517279
scholarrs1057517279
googlers1057517279
pharmgkbrs1057517279
gwascentralrs1057517279
openSNPrs1057517279
23andMers1057517279
23andMe allrs1057517279
SNPshotrs1057517279
SNPdbers1057517279
MSV3drs1057517279
GWAS Ctlgrs1057517279
Max Magnitude0
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,