rs138680796

Orientation

plus

Stabilized

plus

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

Make rs138680796(C;T)

Make rs138680796(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

89145311

Gene

ACSF3

is a	snp
is	mentioned by
dbSNP	rs138680796
dbSNP (classic)	rs138680796
ClinGen	rs138680796
ebi	rs138680796
HLI	rs138680796
Exac	rs138680796
Gnomad	rs138680796
Varsome	rs138680796
LitVar	rs138680796
Map	rs138680796
PheGenI	rs138680796
Biobank	rs138680796
1000 genomes	rs138680796
hgdp	rs138680796
ensembl	rs138680796
geneview	rs138680796
scholar	rs138680796
google	rs138680796
pharmgkb	rs138680796
gwascentral	rs138680796
openSNP	rs138680796
23andMe	rs138680796
SNPshot	rs138680796
SNPdbe	rs138680796
MSV3d	rs138680796
GWAS Ctlg	rs138680796

Max Magnitude

0

ClinVar
Risk	rs138680796(T;T)
Alt	rs138680796(T;T)
Reference	Rs138680796(C;C)
Significance	Pathogenic
Disease	Combined malonic and methylmalonic aciduria
Variation	info
Gene	ACSF3
CLNDBN	Combined malonic and methylmalonic aciduria
Reversed	0
HGVS	NC_000016.9:g.89211719C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024133.3,