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rs104894206

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894206(C;T)
Make rs104894206(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position88309176
GeneCTSC
is asnp
is mentioned by
dbSNPrs104894206
ebirs104894206
HLIrs104894206
Exacrs104894206
Varsomers104894206
Maprs104894206
PheGenIrs104894206
hapmaprs104894206
1000 genomesrs104894206
hgdprs104894206
ensemblrs104894206
gopubmedrs104894206
geneviewrs104894206
scholarrs104894206
googlers104894206
pharmgkbrs104894206
gwascentralrs104894206
openSNPrs104894206
23andMers104894206
23andMe allrs104894206
SNP Nexus

SNPshotrs104894206
SNPdbers104894206
MSV3drs104894206
GWAS Ctlgrs104894206
Max Magnitude0
OMIM602365
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894206(T;T)
Alt rs104894206(T;T)
Reference rs104894206(C;C)
Significance Pathogenic
Disease Papillon-Lefèvre syndrome
Variation info
Gene CTSC
CLNDBN Papillon-Lefèvre syndrome
Reversed 1
HGVS NC_000011.9:g.88042344G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007712.4,