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rs104894209

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894209(C;T)
Make rs104894209(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position88296166
GeneCTSC
is asnp
is mentioned by
dbSNPrs104894209
ebirs104894209
HLIrs104894209
Exacrs104894209
Varsomers104894209
Maprs104894209
PheGenIrs104894209
hapmaprs104894209
1000 genomesrs104894209
hgdprs104894209
ensemblrs104894209
gopubmedrs104894209
geneviewrs104894209
scholarrs104894209
googlers104894209
pharmgkbrs104894209
gwascentralrs104894209
openSNPrs104894209
23andMers104894209
23andMe allrs104894209
SNP Nexus

SNPshotrs104894209
SNPdbers104894209
MSV3drs104894209
GWAS Ctlgrs104894209
Max Magnitude0
OMIM602365
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894209(T;T)
Alt rs104894209(T;T)
Reference rs104894209(C;C)
Significance Pathogenic
Disease Papillon-Lefèvre syndrome
Variation info
Gene CTSC
CLNDBN Papillon-Lefèvre syndrome
Reversed 1
HGVS NC_000011.9:g.88029334G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007715.7,