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rs74315302

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315302(C;C)
Make rs74315302(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position150804203
GeneCTSK
is asnp
is mentioned by
dbSNPrs74315302
ebirs74315302
HLIrs74315302
Exacrs74315302
Varsomers74315302
Maprs74315302
PheGenIrs74315302
hapmaprs74315302
1000 genomesrs74315302
hgdprs74315302
ensemblrs74315302
gopubmedrs74315302
geneviewrs74315302
scholarrs74315302
googlers74315302
pharmgkbrs74315302
gwascentralrs74315302
openSNPrs74315302
23andMers74315302
23andMe allrs74315302
SNP Nexus

SNPshotrs74315302
SNPdbers74315302
MSV3drs74315302
GWAS Ctlgrs74315302
Max Magnitude0
OMIM601105
Desc
Variant0002
Relatedalso
ClinVar
Risk rs74315302(C;C)
Alt rs74315302(C;C)
Reference rs74315302(G;G)
Significance Pathogenic
Disease Pyknodysostosis
Variation info
Gene CTSK
CLNDBN Pyknodysostosis
Reversed 1
HGVS NC_000001.10:g.150776679C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008932.3,