rs121918072

Orientation

plus

Stabilized

plus

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

Make rs121918072(G;G)

Reference

GRCh38 38.1/141

Chromosome

18

Position

31595230

Gene

TTR

is a	snp
is	mentioned by
dbSNP	rs121918072
dbSNP (classic)	rs121918072
ClinGen	rs121918072
ebi	rs121918072
HLI	rs121918072
Exac	rs121918072
Gnomad	rs121918072
Varsome	rs121918072
LitVar	rs121918072
Map	rs121918072
PheGenI	rs121918072
Biobank	rs121918072
1000 genomes	rs121918072
hgdp	rs121918072
ensembl	rs121918072
geneview	rs121918072
scholar	rs121918072
google	rs121918072
pharmgkb	rs121918072
gwascentral	rs121918072
openSNP	rs121918072
23andMe	rs121918072
SNPshot	rs121918072
SNPdbe	rs121918072
MSV3d	rs121918072
GWAS Ctlg	rs121918072

Max Magnitude

5.5

OMIM	176300
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121918072(G;G)
Alt	rs121918072(G;G)
Reference	Rs121918072(T;T)
Significance	Pathogenic
Disease	Amyloidogenic transthyretin amyloidosis
Variation	info
Gene	TTR
CLNDBN	Amyloidogenic transthyretin amyloidosis
Reversed	0
HGVS	NC_000018.9:g.29175193T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014365.27,