rs121918073

Orientation

plus

Stabilized

plus

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

Make rs121918073(A;A)

Reference

GRCh38 38.1/141

Chromosome

18

Position

31598622

Gene

TTR

is a	snp
is	mentioned by
dbSNP	rs121918073
dbSNP (classic)	rs121918073
ClinGen	rs121918073
ebi	rs121918073
HLI	rs121918073
Exac	rs121918073
Gnomad	rs121918073
Varsome	rs121918073
LitVar	rs121918073
Map	rs121918073
PheGenI	rs121918073
Biobank	rs121918073
1000 genomes	rs121918073
hgdp	rs121918073
ensembl	rs121918073
geneview	rs121918073
scholar	rs121918073
google	rs121918073
pharmgkb	rs121918073
gwascentral	rs121918073
openSNP	rs121918073
23andMe	rs121918073
SNPshot	rs121918073
SNPdbe	rs121918073
MSV3d	rs121918073
GWAS Ctlg	rs121918073

Max Magnitude

5.5

OMIM	176300
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121918073(A;A)
Alt	rs121918073(A;A)
Reference	Rs121918073(C;C)
Significance	Pathogenic
Disease	Amyloidogenic transthyretin amyloidosis
Variation	info
Gene	TTR
CLNDBN	Amyloidogenic transthyretin amyloidosis
Reversed	0
HGVS	NC_000018.9:g.29178585C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014366.26,