rs104894375

Orientation

plus

Stabilized

plus

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

Make rs104894375(A;A)

Make rs104894375(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

98595490

Gene

SLC25A3

is a	snp
is	mentioned by
dbSNP	rs104894375
dbSNP (classic)	rs104894375
ClinGen	rs104894375
ebi	rs104894375
HLI	rs104894375
Exac	rs104894375
Gnomad	rs104894375
Varsome	rs104894375
LitVar	rs104894375
Map	rs104894375
PheGenI	rs104894375
Biobank	rs104894375
1000 genomes	rs104894375
hgdp	rs104894375
ensembl	rs104894375
geneview	rs104894375
scholar	rs104894375
google	rs104894375
pharmgkb	rs104894375
gwascentral	rs104894375
openSNP	rs104894375
23andMe	rs104894375
SNPshot	rs104894375
SNPdbe	rs104894375
MSV3d	rs104894375
GWAS Ctlg	rs104894375

Max Magnitude

0

OMIM	600370
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894375(A;A)
Alt	rs104894375(A;A)
Reference	Rs104894375(G;G)
Significance	Pathogenic
Disease	Mitochondrial phosphate carrier deficiency
Variation	info
Gene	SLC25A3
CLNDBN	Mitochondrial phosphate carrier deficiency
Reversed	0
HGVS	NC_000012.11:g.98989268G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009720.5,