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rs74315306

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs74315306(A;T)
Make rs74315306(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position150806191
GeneCTSK
is asnp
is mentioned by
dbSNPrs74315306
ebirs74315306
HLIrs74315306
Exacrs74315306
Varsomers74315306
Maprs74315306
PheGenIrs74315306
hapmaprs74315306
1000 genomesrs74315306
hgdprs74315306
ensemblrs74315306
gopubmedrs74315306
geneviewrs74315306
scholarrs74315306
googlers74315306
pharmgkbrs74315306
gwascentralrs74315306
openSNPrs74315306
23andMers74315306
23andMe allrs74315306
SNP Nexus

SNPshotrs74315306
SNPdbers74315306
MSV3drs74315306
GWAS Ctlgrs74315306
Max Magnitude0
OMIM601105
Desc
Variant0006
Relatedalso
ClinVar
Risk rs74315306(T;T)
Alt rs74315306(T;T)
Reference rs74315306(A;A)
Significance Pathogenic
Disease Pyknodysostosis
Variation info
Gene CTSK
CLNDBN Pyknodysostosis
Reversed 1
HGVS NC_000001.10:g.150778667T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008936.5,