rs121918068

Orientation

plus

Stabilized

plus

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

Make rs121918068(A;A)

Reference

GRCh38 38.1/141

Chromosome

18

Position

31592983

Gene

TTR

is a	snp
is	mentioned by
dbSNP	rs121918068
dbSNP (classic)	rs121918068
ClinGen	rs121918068
ebi	rs121918068
HLI	rs121918068
Exac	rs121918068
Gnomad	rs121918068
Varsome	rs121918068
LitVar	rs121918068
Map	rs121918068
PheGenI	rs121918068
Biobank	rs121918068
1000 genomes	rs121918068
hgdp	rs121918068
ensembl	rs121918068
geneview	rs121918068
scholar	rs121918068
google	rs121918068
pharmgkb	rs121918068
gwascentral	rs121918068
openSNP	rs121918068
23andMe	rs121918068
SNPshot	rs121918068
SNPdbe	rs121918068
MSV3d	rs121918068
GWAS Ctlg	rs121918068

Max Magnitude

5.5

OMIM	176300
Desc
Variant	0002
Related	also

OMIM	176300
Desc
Variant	0040
Related	also

ClinVar
Risk	rs121918068(A;A) rs121918068(C;C)
Alt	rs121918068(A;A) rs121918068(C;C)
Reference	Rs121918068(T;T)
Significance	Pathogenic
Disease	Amyloidogenic transthyretin amyloidosis
Variation	info
Gene	TTR
CLNDBN	Amyloidogenic transthyretin amyloidosis
Reversed	0
HGVS	NC_000018.9:g.29172946T>A; NC_000018.9:g.29172946T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014360.27, RCV000014398.25,