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rs202040269

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs202040269(A;A)
Make rs202040269(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position150804071
GeneCTSK
is asnp
is mentioned by
dbSNPrs202040269
dbSNP (old)rs202040269
ClinGenrs202040269
ebirs202040269
HLIrs202040269
Exacrs202040269
Gnomadrs202040269
Varsomers202040269
LitVarrs202040269
Maprs202040269
PheGenIrs202040269
Biobankrs202040269
1000 genomesrs202040269
hgdprs202040269
ensemblrs202040269
gopubmedrs202040269
geneviewrs202040269
scholarrs202040269
googlers202040269
pharmgkbrs202040269
gwascentralrs202040269
openSNPrs202040269
23andMers202040269
23andMe allrs202040269
SNPshotrs202040269
SNPdbers202040269
MSV3drs202040269
GWAS Ctlgrs202040269
Max Magnitude0
ClinVar
Risk rs202040269(A;A)
Alt rs202040269(A;A)
Reference Rs202040269(G;G)
Significance Probable-Pathogenic
Disease Pyknodysostosis
Variation info
Gene CTSK
CLNDBN Pyknodysostosis
Reversed 0
HGVS NC_000001.10:g.150776547G>A
CLNSRC
CLNACC RCV000409218.1,