Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894214

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894214(A;A)
Make rs104894214(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position88294497
GeneCTSC
is asnp
is mentioned by
dbSNPrs104894214
ebirs104894214
HLIrs104894214
Exacrs104894214
Varsomers104894214
Maprs104894214
PheGenIrs104894214
hapmaprs104894214
1000 genomesrs104894214
hgdprs104894214
ensemblrs104894214
gopubmedrs104894214
geneviewrs104894214
scholarrs104894214
googlers104894214
pharmgkbrs104894214
gwascentralrs104894214
openSNPrs104894214
23andMers104894214
23andMe allrs104894214
SNP Nexus

SNPshotrs104894214
SNPdbers104894214
MSV3drs104894214
GWAS Ctlgrs104894214
Max Magnitude0
OMIM602365
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894214(A;A)
Alt rs104894214(A;A)
Reference rs104894214(G;G)
Significance Pathogenic
Disease Papillon-Lefèvre syndrome
Variation info
Gene CTSC
CLNDBN Papillon-Lefèvre syndrome
Reversed 1
HGVS NC_000011.9:g.88027665C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007720.4,