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rs121918088

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918088(C;C)
Make rs121918088(C;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position31598631
GeneTTR
is asnp
is mentioned by
dbSNPrs121918088
dbSNP (classic)rs121918088
ClinGenrs121918088
ebirs121918088
HLIrs121918088
Exacrs121918088
Gnomadrs121918088
Varsomers121918088
LitVarrs121918088
Maprs121918088
PheGenIrs121918088
Biobankrs121918088
1000 genomesrs121918088
hgdprs121918088
ensemblrs121918088
geneviewrs121918088
scholarrs121918088
googlers121918088
pharmgkbrs121918088
gwascentralrs121918088
openSNPrs121918088
23andMers121918088
SNPshotrs121918088
SNPdbers121918088
MSV3drs121918088
GWAS Ctlgrs121918088
Max Magnitude0
OMIM176300
Desc
Variant0033
Relatedalso
ClinVar
Risk rs121918088(C;C)
Alt rs121918088(C;C)
Reference Rs121918088(T;T)
Significance Pathogenic
Disease Carpal tunnel syndrome
Variation info
Gene TTR
CLNDBN Carpal tunnel syndrome, familial
Reversed 0
HGVS NC_000018.9:g.29178594T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014391.25,