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rs121918299

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918299(C;C)
Make rs121918299(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position69216367
GeneTJP2
is asnp
is mentioned by
dbSNPrs121918299
ebirs121918299
HLIrs121918299
Exacrs121918299
Varsomers121918299
Maprs121918299
PheGenIrs121918299
hapmaprs121918299
1000 genomesrs121918299
hgdprs121918299
ensemblrs121918299
gopubmedrs121918299
geneviewrs121918299
scholarrs121918299
googlers121918299
pharmgkbrs121918299
gwascentralrs121918299
openSNPrs121918299
23andMers121918299
23andMe allrs121918299
SNP Nexus

SNPshotrs121918299
SNPdbers121918299
MSV3drs121918299
GWAS Ctlgrs121918299
Max Magnitude0
OMIM607709
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918299(C;C)
Alt rs121918299(C;C)
Reference rs121918299(T;T)
Significance Pathogenic
Disease Hypercholanemia
Variation info
Gene TJP2
CLNDBN Hypercholanemia, familial
Reversed 0
HGVS NC_000009.11:g.71831283T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003041.2,