rs121918081

Orientation

plus

Stabilized

plus

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

Make rs121918081(G;G)

Reference

GRCh38 38.1/141

Chromosome

18

Position

31595124

Gene

TTR

is a	snp
is	mentioned by
dbSNP	rs121918081
dbSNP (classic)	rs121918081
ClinGen	rs121918081
ebi	rs121918081
HLI	rs121918081
Exac	rs121918081
Gnomad	rs121918081
Varsome	rs121918081
LitVar	rs121918081
Map	rs121918081
PheGenI	rs121918081
Biobank	rs121918081
1000 genomes	rs121918081
hgdp	rs121918081
ensembl	rs121918081
geneview	rs121918081
scholar	rs121918081
google	rs121918081
pharmgkb	rs121918081
gwascentral	rs121918081
openSNP	rs121918081
23andMe	rs121918081
SNPshot	rs121918081
SNPdbe	rs121918081
MSV3d	rs121918081
GWAS Ctlg	rs121918081

Max Magnitude

5.5

OMIM	176300
Desc
Variant	0025
Related	also

ClinVar
Risk	rs121918081(G;G)
Alt	rs121918081(G;G)
Reference	Rs121918081(A;A)
Significance	Pathogenic
Disease	Amyloidogenic transthyretin amyloidosis
Variation	info
Gene	TTR
CLNDBN	Amyloidogenic transthyretin amyloidosis
Reversed	0
HGVS	NC_000018.9:g.29175087A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014383.20,