rs121918084

Orientation

plus

Stabilized

plus

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

Make rs121918084(C;C)

Reference

GRCh38 38.1/141

Chromosome

18

Position

31595191

Gene

TTR

is a	snp
is	mentioned by
dbSNP	rs121918084
dbSNP (classic)	rs121918084
ClinGen	rs121918084
ebi	rs121918084
HLI	rs121918084
Exac	rs121918084
Gnomad	rs121918084
Varsome	rs121918084
LitVar	rs121918084
Map	rs121918084
PheGenI	rs121918084
Biobank	rs121918084
1000 genomes	rs121918084
hgdp	rs121918084
ensembl	rs121918084
geneview	rs121918084
scholar	rs121918084
google	rs121918084
pharmgkb	rs121918084
gwascentral	rs121918084
openSNP	rs121918084
23andMe	rs121918084
SNPshot	rs121918084
SNPdbe	rs121918084
MSV3d	rs121918084
GWAS Ctlg	rs121918084

Max Magnitude

5.5

OMIM	176300
Desc
Variant	0029
Related	also

ClinVar
Risk	rs121918084(C;C)
Alt	rs121918084(C;C)
Reference	Rs121918084(T;T)
Significance	Pathogenic
Disease	Amyloidogenic transthyretin amyloidosis
Variation	info
Gene	TTR
CLNDBN	Amyloidogenic transthyretin amyloidosis
Reversed	0
HGVS	NC_000018.9:g.29175154T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014387.18,