rs267607161

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	4	TTR-related familial amyloid polyneuropathy

Make rs267607161(T;T)

Reference

GRCh38 38.1/141

Chromosome

18

Position

31598580

Gene

TTR

is a	snp
is	mentioned by
dbSNP	rs267607161
dbSNP (classic)	rs267607161
ClinGen	rs267607161
ebi	rs267607161
HLI	rs267607161
Exac	rs267607161
Gnomad	rs267607161
Varsome	rs267607161
LitVar	rs267607161
Map	rs267607161
PheGenI	rs267607161
Biobank	rs267607161
1000 genomes	rs267607161
hgdp	rs267607161
ensembl	rs267607161
geneview	rs267607161
scholar	rs267607161
google	rs267607161
pharmgkb	rs267607161
gwascentral	rs267607161
openSNP	rs267607161
23andMe	rs267607161
SNPshot	rs267607161
SNPdbe	rs267607161
MSV3d	rs267607161
GWAS Ctlg	rs267607161

Max Magnitude

4

aka c.349G>T (p.Ala117Ser or A117S; however, commonly also referred to in the literature as Ala97Ser or A97S)

This variant is reported to be the most common TTR gene mutation among ethnic Chinese Malaysians with transthyretin familial amyloid polyneuropathy.[PMID 31343308]

ClinVar
Risk	rs267607161(T;T)
Alt	rs267607161(T;T)
Reference	Rs267607161(G;G)
Significance	Pathogenic
Disease	Amyloidogenic transthyretin amyloidosis not provided
Variation	info
Gene	TTR
CLNDBN	Amyloidogenic transthyretin amyloidosis not provided
Reversed	0
HGVS	NC_000018.9:g.29178543G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014410.25, RCV000223869.1,