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rs104894215

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894215(C;C)
Make rs104894215(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position88294111
GeneCTSC
is asnp
is mentioned by
dbSNPrs104894215
ebirs104894215
HLIrs104894215
Exacrs104894215
Varsomers104894215
Maprs104894215
PheGenIrs104894215
hapmaprs104894215
1000 genomesrs104894215
hgdprs104894215
ensemblrs104894215
gopubmedrs104894215
geneviewrs104894215
scholarrs104894215
googlers104894215
pharmgkbrs104894215
gwascentralrs104894215
openSNPrs104894215
23andMers104894215
23andMe allrs104894215
SNP Nexus

SNPshotrs104894215
SNPdbers104894215
MSV3drs104894215
GWAS Ctlgrs104894215
Max Magnitude0
OMIM602365
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104894215(C;C)
Alt rs104894215(C;C)
Reference rs104894215(G;G)
Significance Pathogenic
Disease Papillon-Lefèvre syndrome
Variation info
Gene CTSC
CLNDBN Papillon-Lefèvre syndrome
Reversed 1
HGVS NC_000011.9:g.88027279C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007721.5,