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rs104894207

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894207(A;T)
Make rs104894207(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position88300532
GeneCTSC
is asnp
is mentioned by
dbSNPrs104894207
ebirs104894207
HLIrs104894207
Exacrs104894207
Varsomers104894207
Maprs104894207
PheGenIrs104894207
hapmaprs104894207
1000 genomesrs104894207
hgdprs104894207
ensemblrs104894207
gopubmedrs104894207
geneviewrs104894207
scholarrs104894207
googlers104894207
pharmgkbrs104894207
gwascentralrs104894207
openSNPrs104894207
23andMers104894207
23andMe allrs104894207
SNP Nexus

SNPshotrs104894207
SNPdbers104894207
MSV3drs104894207
GWAS Ctlgrs104894207
Max Magnitude0
OMIM602365
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894207(T;T)
Alt rs104894207(T;T)
Reference rs104894207(A;A)
Significance Pathogenic
Disease Papillon-Lefèvre syndrome
Variation info
Gene CTSC
CLNDBN Papillon-Lefèvre syndrome
Reversed 1
HGVS NC_000011.9:g.88033700T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007714.5,