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rs104894216

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894216(A;C)
Make rs104894216(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position88312493
GeneCTSC
is asnp
is mentioned by
dbSNPrs104894216
ebirs104894216
HLIrs104894216
Exacrs104894216
Varsomers104894216
Maprs104894216
PheGenIrs104894216
hapmaprs104894216
1000 genomesrs104894216
hgdprs104894216
ensemblrs104894216
gopubmedrs104894216
geneviewrs104894216
scholarrs104894216
googlers104894216
pharmgkbrs104894216
gwascentralrs104894216
openSNPrs104894216
23andMers104894216
23andMe allrs104894216
SNP Nexus

SNPshotrs104894216
SNPdbers104894216
MSV3drs104894216
GWAS Ctlgrs104894216
Max Magnitude0
OMIM602365
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104894216(C,G;C,G)
Alt rs104894216(C,G;C,G)
Reference rs104894216(A;A)
Significance Pathogenic
Disease Papillon-Lefèvre syndrome
Variation info
Gene CTSC
CLNDBN Papillon-Lefèvre syndrome
Reversed 1
HGVS NC_000011.9:g.88045661T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007722.4,