rs386134269

Orientation

plus

Stabilized

plus

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

Make rs386134269(C;C)

Reference

GRCh38 38.1/141

Chromosome

18

Position

31595127

Gene

TTR

is a	snp
is	mentioned by
dbSNP	rs386134269
dbSNP (classic)	rs386134269
ClinGen	rs386134269
ebi	rs386134269
HLI	rs386134269
Exac	rs386134269
Gnomad	rs386134269
Varsome	rs386134269
LitVar	rs386134269
Map	rs386134269
PheGenI	rs386134269
Biobank	rs386134269
1000 genomes	rs386134269
hgdp	rs386134269
ensembl	rs386134269
geneview	rs386134269
scholar	rs386134269
google	rs386134269
pharmgkb	rs386134269
gwascentral	rs386134269
openSNP	rs386134269
23andMe	rs386134269
SNPshot	rs386134269
SNPdbe	rs386134269
MSV3d	rs386134269
GWAS Ctlg	rs386134269

Max Magnitude

5.5

ClinVar
Risk	rs386134269(C;C) rs386134269(G;G)
Alt	rs386134269(C;C) rs386134269(G;G)
Reference	Rs386134269(A;A)
Significance	Probable-Pathogenic
Disease	Amyloidogenic transthyretin amyloidosis
Variation	info
Gene	TTR
CLNDBN	Amyloidogenic transthyretin amyloidosis
Reversed	0
HGVS	NC_000018.9:g.29175090A>C
CLNSRC	ClinVar LabCorp
CLNACC	RCV000030571.1,