rs387907120

Orientation

plus

Stabilized

plus

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

Make rs387907120(C;T)

Make rs387907120(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

89114434

Gene

ACSF3

is a	snp
is	mentioned by
dbSNP	rs387907120
dbSNP (classic)	rs387907120
ClinGen	rs387907120
ebi	rs387907120
HLI	rs387907120
Exac	rs387907120
Gnomad	rs387907120
Varsome	rs387907120
LitVar	rs387907120
Map	rs387907120
PheGenI	rs387907120
Biobank	rs387907120
1000 genomes	rs387907120
hgdp	rs387907120
ensembl	rs387907120
geneview	rs387907120
scholar	rs387907120
google	rs387907120
pharmgkb	rs387907120
gwascentral	rs387907120
openSNP	rs387907120
23andMe	rs387907120
SNPshot	rs387907120
SNPdbe	rs387907120
MSV3d	rs387907120
GWAS Ctlg	rs387907120

Max Magnitude

0

ClinVar
Risk	rs387907120(T;T)
Alt	rs387907120(T;T)
Reference	Rs387907120(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.89180842C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024135.3,