rs121918071

Orientation

plus

Stabilized

plus

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

Make rs121918071(A;A)

Reference

GRCh38 38.1/141

Chromosome

18

Position

31595209

Gene

TTR

is a	snp
is	mentioned by
dbSNP	rs121918071
dbSNP (classic)	rs121918071
ClinGen	rs121918071
ebi	rs121918071
HLI	rs121918071
Exac	rs121918071
Gnomad	rs121918071
Varsome	rs121918071
LitVar	rs121918071
Map	rs121918071
PheGenI	rs121918071
Biobank	rs121918071
1000 genomes	rs121918071
hgdp	rs121918071
ensembl	rs121918071
geneview	rs121918071
scholar	rs121918071
google	rs121918071
pharmgkb	rs121918071
gwascentral	rs121918071
openSNP	rs121918071
23andMe	rs121918071
SNPshot	rs121918071
SNPdbe	rs121918071
MSV3d	rs121918071
GWAS Ctlg	rs121918071

Max Magnitude

5.5

OMIM	176300
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121918071(A;A)
Alt	rs121918071(A;A)
Reference	Rs121918071(C;C)
Significance	Pathogenic
Disease	Amyloidogenic transthyretin amyloidosis
Variation	info
Gene	TTR
CLNDBN	Amyloidogenic transthyretin amyloidosis
Reversed	0
HGVS	NC_000018.9:g.29175172C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014364.19,