rs121918094

Orientation

plus

Stabilized

plus

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

Make rs121918094(C;C)

Reference

GRCh38 38.1/141

Chromosome

18

Position

31592921

Gene

TTR

is a	snp
is	mentioned by
dbSNP	rs121918094
dbSNP (classic)	rs121918094
ClinGen	rs121918094
ebi	rs121918094
HLI	rs121918094
Exac	rs121918094
Gnomad	rs121918094
Varsome	rs121918094
LitVar	rs121918094
Map	rs121918094
PheGenI	rs121918094
Biobank	rs121918094
1000 genomes	rs121918094
hgdp	rs121918094
ensembl	rs121918094
geneview	rs121918094
scholar	rs121918094
google	rs121918094
pharmgkb	rs121918094
gwascentral	rs121918094
openSNP	rs121918094
23andMe	rs121918094
SNPshot	rs121918094
SNPdbe	rs121918094
MSV3d	rs121918094
GWAS Ctlg	rs121918094

Max Magnitude

5.5

OMIM	176300
Desc
Variant	0041
Related	also

ClinVar
Risk	rs121918094(C;C)
Alt	rs121918094(C;C)
Reference	Rs121918094(T;T)
Significance	Pathogenic
Disease	Amyloidogenic transthyretin amyloidosis
Variation	info
Gene	TTR
CLNDBN	Amyloidogenic transthyretin amyloidosis
Reversed	0
HGVS	NC_000018.9:g.29172884T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014399.24,