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rs74315301

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs74315301(A;G)
Make rs74315301(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position150796799
GeneCTSK
is asnp
is mentioned by
dbSNPrs74315301
ebirs74315301
HLIrs74315301
Exacrs74315301
Varsomers74315301
Maprs74315301
PheGenIrs74315301
hapmaprs74315301
1000 genomesrs74315301
hgdprs74315301
ensemblrs74315301
gopubmedrs74315301
geneviewrs74315301
scholarrs74315301
googlers74315301
pharmgkbrs74315301
gwascentralrs74315301
openSNPrs74315301
23andMers74315301
23andMe allrs74315301
SNP Nexus

SNPshotrs74315301
SNPdbers74315301
MSV3drs74315301
GWAS Ctlgrs74315301
Max Magnitude0
OMIM601105
Desc
Variant0001
Relatedalso
ClinVar
Risk rs74315301(G;G)
Alt rs74315301(G;G)
Reference rs74315301(A;A)
Significance Pathogenic
Disease Pyknodysostosis
Variation info
Gene CTSK
CLNDBN Pyknodysostosis
Reversed 1
HGVS NC_000001.10:g.150769275T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008931.2,