rs121964848

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs121964848(A;A)

Make rs121964848(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

6868873

Gene

TPI1

is a	snp
is	mentioned by
dbSNP	rs121964848
dbSNP (classic)	rs121964848
ClinGen	rs121964848
ebi	rs121964848
HLI	rs121964848
Exac	rs121964848
Gnomad	rs121964848
Varsome	rs121964848
LitVar	rs121964848
Map	rs121964848
PheGenI	rs121964848
Biobank	rs121964848
1000 genomes	rs121964848
hgdp	rs121964848
ensembl	rs121964848
geneview	rs121964848
scholar	rs121964848
google	rs121964848
pharmgkb	rs121964848
gwascentral	rs121964848
openSNP	rs121964848
23andMe	rs121964848
SNPshot	rs121964848
SNPdbe	rs121964848
MSV3d	rs121964848
GWAS Ctlg	rs121964848

Max Magnitude

0

OMIM	190450
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121964848(A;A)
Alt	rs121964848(A;A)
Reference	Rs121964848(G;G)
Significance	Pathogenic
Disease	Triosephosphate isomerase deficiency
Variation	info
Gene	TPI1
CLNDBN	Triosephosphate isomerase deficiency
Reversed	0
HGVS	NC_000012.11:g.6978037G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013289.25,