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rs74315305

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315305(A;A)
Make rs74315305(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position150806109
GeneCTSK
is asnp
is mentioned by
dbSNPrs74315305
ebirs74315305
HLIrs74315305
Exacrs74315305
Varsomers74315305
Maprs74315305
PheGenIrs74315305
hapmaprs74315305
1000 genomesrs74315305
hgdprs74315305
ensemblrs74315305
gopubmedrs74315305
geneviewrs74315305
scholarrs74315305
googlers74315305
pharmgkbrs74315305
gwascentralrs74315305
openSNPrs74315305
23andMers74315305
23andMe allrs74315305
SNP Nexus

SNPshotrs74315305
SNPdbers74315305
MSV3drs74315305
GWAS Ctlgrs74315305
Max Magnitude0
OMIM601105
Desc
Variant0005
Relatedalso
ClinVar
Risk rs74315305(A;A)
Alt rs74315305(A;A)
Reference rs74315305(G;G)
Significance Pathogenic
Disease Pyknodysostosis
Variation info
Gene CTSK
CLNDBN Pyknodysostosis
Reversed 1
HGVS NC_000001.10:g.150778585C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008935.3,