rs387907118

Orientation

plus

Stabilized

plus

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

Make rs387907118(C;T)

Make rs387907118(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

89146003

Gene

ACSF3

is a	snp
is	mentioned by
dbSNP	rs387907118
dbSNP (classic)	rs387907118
ClinGen	rs387907118
ebi	rs387907118
HLI	rs387907118
Exac	rs387907118
Gnomad	rs387907118
Varsome	rs387907118
LitVar	rs387907118
Map	rs387907118
PheGenI	rs387907118
Biobank	rs387907118
1000 genomes	rs387907118
hgdp	rs387907118
ensembl	rs387907118
geneview	rs387907118
scholar	rs387907118
google	rs387907118
pharmgkb	rs387907118
gwascentral	rs387907118
openSNP	rs387907118
23andMe	rs387907118
SNPshot	rs387907118
SNPdbe	rs387907118
MSV3d	rs387907118
GWAS Ctlg	rs387907118

Max Magnitude

0

ClinVar
Risk	rs387907118(T;T)
Alt	rs387907118(T;T)
Reference	Rs387907118(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.89212411C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000024131.3,