rs121918080

Orientation

plus

Stabilized

plus

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

Make rs121918080(T;T)

Reference

GRCh38 38.1/141

Chromosome

18

Position

31595128

Gene

TTR

is a	snp
is	mentioned by
dbSNP	rs121918080
dbSNP (classic)	rs121918080
ClinGen	rs121918080
ebi	rs121918080
HLI	rs121918080
Exac	rs121918080
Gnomad	rs121918080
Varsome	rs121918080
LitVar	rs121918080
Map	rs121918080
PheGenI	rs121918080
Biobank	rs121918080
1000 genomes	rs121918080
hgdp	rs121918080
ensembl	rs121918080
geneview	rs121918080
scholar	rs121918080
google	rs121918080
pharmgkb	rs121918080
gwascentral	rs121918080
openSNP	rs121918080
23andMe	rs121918080
SNPshot	rs121918080
SNPdbe	rs121918080
MSV3d	rs121918080
GWAS Ctlg	rs121918080

Max Magnitude

5.5

OMIM	176300
Desc
Variant	0023
Related	also

ClinVar
Risk	rs121918080(A;A) rs121918080(T;T)
Alt	rs121918080(A;A) rs121918080(T;T)
Reference	Rs121918080(G;G)
Significance	Pathogenic
Disease	Amyloidogenic transthyretin amyloidosis
Variation	info
Gene	TTR
CLNDBN	Amyloidogenic transthyretin amyloidosis
Reversed	0
HGVS	NC_000018.9:g.29175091G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014381.24,