rs121918075

Orientation

plus

Stabilized

plus

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

Make rs121918075(G;G)

Reference

GRCh38 38.1/141

Chromosome

18

Position

31598632

Gene

TTR

is a	snp
is	mentioned by
dbSNP	rs121918075
dbSNP (classic)	rs121918075
ClinGen	rs121918075
ebi	rs121918075
HLI	rs121918075
Exac	rs121918075
Gnomad	rs121918075
Varsome	rs121918075
LitVar	rs121918075
Map	rs121918075
PheGenI	rs121918075
Biobank	rs121918075
1000 genomes	rs121918075
hgdp	rs121918075
ensembl	rs121918075
geneview	rs121918075
scholar	rs121918075
google	rs121918075
pharmgkb	rs121918075
gwascentral	rs121918075
openSNP	rs121918075
23andMe	rs121918075
SNPshot	rs121918075
SNPdbe	rs121918075
MSV3d	rs121918075
GWAS Ctlg	rs121918075

Max Magnitude

5.5

OMIM	176300
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121918075(G;G)
Alt	rs121918075(G;G)
Reference	Rs121918075(A;A)
Significance	Pathogenic
Disease	Amyloidogenic transthyretin amyloidosis
Variation	info
Gene	TTR
CLNDBN	Amyloidogenic transthyretin amyloidosis
Reversed	0
HGVS	NC_000018.9:g.29178595A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014361.23,