rs104894665

Orientation

plus

Stabilized

plus

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

Make rs104894665(C;C)

Reference

GRCh38 38.1/141

Chromosome

18

Position

31593017

Gene

TTR

is a	snp
is	mentioned by
dbSNP	rs104894665
dbSNP (classic)	rs104894665
ClinGen	rs104894665
ebi	rs104894665
HLI	rs104894665
Exac	rs104894665
Gnomad	rs104894665
Varsome	rs104894665
LitVar	rs104894665
Map	rs104894665
PheGenI	rs104894665
Biobank	rs104894665
1000 genomes	rs104894665
hgdp	rs104894665
ensembl	rs104894665
geneview	rs104894665
scholar	rs104894665
google	rs104894665
pharmgkb	rs104894665
gwascentral	rs104894665
openSNP	rs104894665
23andMe	rs104894665
SNPshot	rs104894665
SNPdbe	rs104894665
MSV3d	rs104894665
GWAS Ctlg	rs104894665

Max Magnitude

5.5

OMIM	176300
Desc
Variant	0045
Related	also

OMIM	176300
Desc
Variant	0048
Related	also

ClinVar
Risk	rs104894665(C;C)
Alt	rs104894665(C;C)
Reference	Rs104894665(T;T)
Significance	Pathogenic
Disease	Amyloidogenic transthyretin amyloidosis AMYLOIDOSIS
Variation	info
Gene	TTR
CLNDBN	Amyloidogenic transthyretin amyloidosis AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
Reversed	0
HGVS	NC_000018.9:g.29172980T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014403.24, RCV000014406.18,