rs121918069

Orientation

plus

Stabilized

plus

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

Make rs121918069(A;A)

Reference

GRCh38 38.1/141

Chromosome

18

Position

31595152

Gene

TTR

is a	snp
is	mentioned by
dbSNP	rs121918069
dbSNP (classic)	rs121918069
ClinGen	rs121918069
ebi	rs121918069
HLI	rs121918069
Exac	rs121918069
Gnomad	rs121918069
Varsome	rs121918069
LitVar	rs121918069
Map	rs121918069
PheGenI	rs121918069
Biobank	rs121918069
1000 genomes	rs121918069
hgdp	rs121918069
ensembl	rs121918069
geneview	rs121918069
scholar	rs121918069
google	rs121918069
pharmgkb	rs121918069
gwascentral	rs121918069
openSNP	rs121918069
23andMe	rs121918069
SNPshot	rs121918069
SNPdbe	rs121918069
MSV3d	rs121918069
GWAS Ctlg	rs121918069

Max Magnitude

5.5

OMIM	176300
Desc
Variant	0003
Related	also

OMIM	176300
Desc
Variant	0019
Related	also

ClinVar
Risk	rs121918069(A;A) rs121918069(G;G)
Alt	rs121918069(A;A) rs121918069(G;G)
Reference	Rs121918069(T;T)
Significance	Pathogenic
Disease	Amyloidogenic transthyretin amyloidosis not provided
Variation	info
Gene	TTR
CLNDBN	Amyloidogenic transthyretin amyloidosis not provided
Reversed	0
HGVS	NC_000018.9:g.29175115T>A; NC_000018.9:g.29175115T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014362.26, RCV000159437.2, RCV000014377.24,