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rs104894208

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894208(A;G)
Make rs104894208(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position88296165
GeneCTSC
is asnp
is mentioned by
dbSNPrs104894208
ebirs104894208
HLIrs104894208
Exacrs104894208
Varsomers104894208
Maprs104894208
PheGenIrs104894208
hapmaprs104894208
1000 genomesrs104894208
hgdprs104894208
ensemblrs104894208
gopubmedrs104894208
geneviewrs104894208
scholarrs104894208
googlers104894208
pharmgkbrs104894208
gwascentralrs104894208
openSNPrs104894208
23andMers104894208
23andMe allrs104894208
SNP Nexus

SNPshotrs104894208
SNPdbers104894208
MSV3drs104894208
GWAS Ctlgrs104894208
Max Magnitude0
OMIM602365
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894208(G;G)
Alt rs104894208(G;G)
Reference rs104894208(A;A)
Significance Pathogenic
Disease Haim-Munk syndrome Papillon-Lefèvre syndrome
Variation info
Gene CTSC
CLNDBN Haim-Munk syndrome Papillon-Lefèvre syndrome
Reversed 1
HGVS NC_000011.9:g.88029333T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000007717.5, RCV000179387.1,