rs121918083

Orientation

plus

Stabilized

plus

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

Make rs121918083(C;C)

Reference

GRCh38 38.1/141

Chromosome

18

Position

31592914

Gene

TTR

is a	snp
is	mentioned by
dbSNP	rs121918083
dbSNP (classic)	rs121918083
ClinGen	rs121918083
ebi	rs121918083
HLI	rs121918083
Exac	rs121918083
Gnomad	rs121918083
Varsome	rs121918083
LitVar	rs121918083
Map	rs121918083
PheGenI	rs121918083
Biobank	rs121918083
1000 genomes	rs121918083
hgdp	rs121918083
ensembl	rs121918083
geneview	rs121918083
scholar	rs121918083
google	rs121918083
pharmgkb	rs121918083
gwascentral	rs121918083
openSNP	rs121918083
23andMe	rs121918083
SNPshot	rs121918083
SNPdbe	rs121918083
MSV3d	rs121918083
GWAS Ctlg	rs121918083

Max Magnitude

5.5

OMIM	176300
Desc
Variant	0028
Related	also

ClinVar
Risk	rs121918083(C;C)
Alt	rs121918083(C;C)
Reference	Rs121918083(T;T)
Significance	Pathogenic
Disease	Amyloidogenic transthyretin amyloidosis
Variation	info
Gene	TTR
CLNDBN	Amyloidogenic transthyretin amyloidosis
Reversed	0
HGVS	NC_000018.9:g.29172877T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014386.27,