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rs104894210

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894210(C;C)
Make rs104894210(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position88337557
GeneCTSC
is asnp
is mentioned by
dbSNPrs104894210
ebirs104894210
HLIrs104894210
Exacrs104894210
Varsomers104894210
Maprs104894210
PheGenIrs104894210
hapmaprs104894210
1000 genomesrs104894210
hgdprs104894210
ensemblrs104894210
gopubmedrs104894210
geneviewrs104894210
scholarrs104894210
googlers104894210
pharmgkbrs104894210
gwascentralrs104894210
openSNPrs104894210
23andMers104894210
23andMe allrs104894210
SNP Nexus

SNPshotrs104894210
SNPdbers104894210
MSV3drs104894210
GWAS Ctlgrs104894210
Max Magnitude0
OMIM602365
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894210(C;C)
Alt rs104894210(C;C)
Reference rs104894210(G;G)
Significance Pathogenic
Disease Papillon-Lefèvre syndrome
Variation info
Gene CTSC
CLNDBN Papillon-Lefèvre syndrome
Reversed 1
HGVS NC_000011.9:g.88070725C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007719.4,