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rs1057517252

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517252(C;C)
Make rs1057517252(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position150806780
GeneCTSK
is asnp
is mentioned by
dbSNPrs1057517252
dbSNP (old)rs1057517252
ClinGenrs1057517252
ebirs1057517252
HLIrs1057517252
Exacrs1057517252
Gnomadrs1057517252
Varsomers1057517252
LitVarrs1057517252
Maprs1057517252
PheGenIrs1057517252
Biobankrs1057517252
1000 genomesrs1057517252
hgdprs1057517252
ensemblrs1057517252
gopubmedrs1057517252
geneviewrs1057517252
scholarrs1057517252
googlers1057517252
pharmgkbrs1057517252
gwascentralrs1057517252
openSNPrs1057517252
23andMers1057517252
23andMe allrs1057517252
SNPshotrs1057517252
SNPdbers1057517252
MSV3drs1057517252
GWAS Ctlgrs1057517252
Max Magnitude0
ClinVar
Risk rs1057517252(C;C)
Alt rs1057517252(C;C)
Reference Rs1057517252(T;T)
Significance Probable-Pathogenic
Disease Pyknodysostosis
Variation info
Gene CTSK
CLNDBN Pyknodysostosis
Reversed 1
HGVS NC_000001.10:g.150779256A>G
CLNSRC
CLNACC RCV000409305.1,