rs121918079

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;T)	5.5	TTR-related amyloidosis
(T;T)	0	common in clinvar

Make rs121918079(C;C)

Reference

GRCh38 38.1/141

Chromosome

18

Position

31595143

Gene

TTR

is a	snp
is	mentioned by
dbSNP	rs121918079
dbSNP (classic)	rs121918079
ClinGen	rs121918079
ebi	rs121918079
HLI	rs121918079
Exac	rs121918079
Gnomad	rs121918079
Varsome	rs121918079
LitVar	rs121918079
Map	rs121918079
PheGenI	rs121918079
Biobank	rs121918079
1000 genomes	rs121918079
hgdp	rs121918079
ensembl	rs121918079
geneview	rs121918079
scholar	rs121918079
google	rs121918079
pharmgkb	rs121918079
gwascentral	rs121918079
openSNP	rs121918079
23andMe	rs121918079
SNPshot	rs121918079
SNPdbe	rs121918079
MSV3d	rs121918079
GWAS Ctlg	rs121918079

Max Magnitude

5.5

OMIM	176300
Desc
Variant	0022
Related	also

ClinVar
Risk	rs121918079(C;C)
Alt	rs121918079(C;C)
Reference	Rs121918079(T;T)
Significance	Pathogenic
Disease	Amyloidogenic transthyretin amyloidosis
Variation	info
Gene	TTR
CLNDBN	Amyloidogenic transthyretin amyloidosis
Reversed	0
HGVS	NC_000018.9:g.29175106T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014380.17,