rs387907119

Orientation

plus

Stabilized

plus

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

Make rs387907119(A;A)

Make rs387907119(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

89145312

Gene

ACSF3

is a	snp
is	mentioned by
dbSNP	rs387907119
dbSNP (classic)	rs387907119
ClinGen	rs387907119
ebi	rs387907119
HLI	rs387907119
Exac	rs387907119
Gnomad	rs387907119
Varsome	rs387907119
LitVar	rs387907119
Map	rs387907119
PheGenI	rs387907119
Biobank	rs387907119
1000 genomes	rs387907119
hgdp	rs387907119
ensembl	rs387907119
geneview	rs387907119
scholar	rs387907119
google	rs387907119
pharmgkb	rs387907119
gwascentral	rs387907119
openSNP	rs387907119
23andMe	rs387907119
SNPshot	rs387907119
SNPdbe	rs387907119
MSV3d	rs387907119
GWAS Ctlg	rs387907119

Max Magnitude

0

ClinVar
Risk	rs387907119(A;A)
Alt	rs387907119(A;A)
Reference	Rs387907119(G;G)
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.89211720G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024134.3,