rs121918076

Orientation

plus

Stabilized

plus

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

Make rs121918076(G;G)

Reference

GRCh38 38.1/141

Chromosome

18

Position

31595129

Gene

TTR

is a	snp
is	mentioned by
dbSNP	rs121918076
dbSNP (classic)	rs121918076
ClinGen	rs121918076
ebi	rs121918076
HLI	rs121918076
Exac	rs121918076
Gnomad	rs121918076
Varsome	rs121918076
LitVar	rs121918076
Map	rs121918076
PheGenI	rs121918076
Biobank	rs121918076
1000 genomes	rs121918076
hgdp	rs121918076
ensembl	rs121918076
geneview	rs121918076
scholar	rs121918076
google	rs121918076
pharmgkb	rs121918076
gwascentral	rs121918076
openSNP	rs121918076
23andMe	rs121918076
SNPshot	rs121918076
SNPdbe	rs121918076
MSV3d	rs121918076
GWAS Ctlg	rs121918076

Max Magnitude

5.5

OMIM	176300
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121918076(A;A) rs121918076(G;G)
Alt	rs121918076(A;A) rs121918076(G;G)
Reference	Rs121918076(T;T)
Significance	Pathogenic
Disease	Amyloidogenic transthyretin amyloidosis
Variation	info
Gene	TTR
CLNDBN	Amyloidogenic transthyretin amyloidosis
Reversed	0
HGVS	NC_000018.9:g.29175092T>A; NC_000018.9:g.29175092T>G
CLNSRC	UniProtKB (protein) OMIM Allelic Variant
CLNACC	RCV000030572.1, RCV000014371.25,