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rs1057517263

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517263(A;A)
Make rs1057517263(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position150806101
GeneCTSK
is asnp
is mentioned by
dbSNPrs1057517263
dbSNP (classic)rs1057517263
ClinGenrs1057517263
ebirs1057517263
HLIrs1057517263
Exacrs1057517263
Gnomadrs1057517263
Varsomers1057517263
LitVarrs1057517263
Maprs1057517263
PheGenIrs1057517263
Biobankrs1057517263
1000 genomesrs1057517263
hgdprs1057517263
ensemblrs1057517263
geneviewrs1057517263
scholarrs1057517263
googlers1057517263
pharmgkbrs1057517263
gwascentralrs1057517263
openSNPrs1057517263
23andMers1057517263
23andMe allrs1057517263
SNPshotrs1057517263
SNPdbers1057517263
MSV3drs1057517263
GWAS Ctlgrs1057517263
Max Magnitude0
ClinVar
Risk rs1057517263(A;A)
Alt rs1057517263(A;A)
Reference Rs1057517263(G;G)
Significance Probable-Pathogenic
Disease Pyknodysostosis
Variation info
Gene CTSK
CLNDBN Pyknodysostosis
Reversed 1
HGVS NC_000001.10:g.150778577C>T
CLNSRC
CLNACC RCV000408975.1,