rs121918077

Orientation

plus

Stabilized

plus

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

Make rs121918077(C;C)

Reference

GRCh38 38.1/141

Chromosome

18

Position

31592992

Gene

TTR

is a	snp
is	mentioned by
dbSNP	rs121918077
dbSNP (classic)	rs121918077
ClinGen	rs121918077
ebi	rs121918077
HLI	rs121918077
Exac	rs121918077
Gnomad	rs121918077
Varsome	rs121918077
LitVar	rs121918077
Map	rs121918077
PheGenI	rs121918077
Biobank	rs121918077
1000 genomes	rs121918077
hgdp	rs121918077
ensembl	rs121918077
geneview	rs121918077
scholar	rs121918077
google	rs121918077
pharmgkb	rs121918077
gwascentral	rs121918077
openSNP	rs121918077
23andMe	rs121918077
SNPshot	rs121918077
SNPdbe	rs121918077
MSV3d	rs121918077
GWAS Ctlg	rs121918077

Max Magnitude

5.5

OMIM	176300
Desc
Variant	0016
Related	also

ClinVar
Risk	rs121918077(C;C)
Alt	rs121918077(C;C)
Reference	Rs121918077(G;G)
Significance	Pathogenic
Disease	Amyloidogenic transthyretin amyloidosis
Variation	info
Gene	TTR
CLNDBN	Amyloidogenic transthyretin amyloidosis
Reversed	0
HGVS	NC_000018.9:g.29172955G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014374.18,