rs121918093

Orientation

plus

Stabilized

plus

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

Make rs121918093(A;A)

Reference

GRCh38 38.1/141

Chromosome

18

Position

31592944

Gene

TTR

is a	snp
is	mentioned by
dbSNP	rs121918093
dbSNP (classic)	rs121918093
ClinGen	rs121918093
ebi	rs121918093
HLI	rs121918093
Exac	rs121918093
Gnomad	rs121918093
Varsome	rs121918093
LitVar	rs121918093
Map	rs121918093
PheGenI	rs121918093
Biobank	rs121918093
1000 genomes	rs121918093
hgdp	rs121918093
ensembl	rs121918093
geneview	rs121918093
scholar	rs121918093
google	rs121918093
pharmgkb	rs121918093
gwascentral	rs121918093
openSNP	rs121918093
23andMe	rs121918093
SNPshot	rs121918093
SNPdbe	rs121918093
MSV3d	rs121918093
GWAS Ctlg	rs121918093

Max Magnitude

5.5

OMIM	176300
Desc
Variant	0039
Related	also

ClinVar
Risk	rs121918093(A;A)
Alt	rs121918093(A;A)
Reference	Rs121918093(G;G)
Significance	Pathogenic
Disease	Amyloidogenic transthyretin amyloidosis not provided
Variation	info
Gene	TTR
CLNDBN	Amyloidogenic transthyretin amyloidosis not provided
Reversed	0
HGVS	NC_000018.9:g.29172907G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014397.24, RCV000159420.2,