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rs79977247

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs79977247(C;C)
Make rs79977247(C;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position31592975
GeneTTR
is asnp
is mentioned by
dbSNPrs79977247
ebirs79977247
HLIrs79977247
Exacrs79977247
Varsomers79977247
Maprs79977247
PheGenIrs79977247
hapmaprs79977247
1000 genomesrs79977247
hgdprs79977247
ensemblrs79977247
gopubmedrs79977247
geneviewrs79977247
scholarrs79977247
googlers79977247
pharmgkbrs79977247
gwascentralrs79977247
openSNPrs79977247
23andMers79977247
23andMe allrs79977247
SNP Nexus

SNPshotrs79977247
SNPdbers79977247
MSV3drs79977247
GWAS Ctlgrs79977247
Max Magnitude0
OMIM176300
Desc
Variant0014
Relatedalso
OMIM176300
Desc
Variant0049
Relatedalso
ClinVar
Risk rs79977247(C,G;C,G)
Alt rs79977247(C,G;C,G)
Reference rs79977247(T;T)
Significance Pathogenic
Disease Amyloidogenic transthyretin amyloidosis AMYLOIDOSIS
Variation info
Gene TTR
CLNDBN Amyloidogenic transthyretin amyloidosis AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
Reversed 0
HGVS NC_000018.9:g.29172938T>C; NC_000018.9:g.29172938T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014372.26, RCV000014407.24,