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rs104894375

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894375(A;A)
Make rs104894375(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position98595490
GeneSLC25A3
is asnp
is mentioned by
dbSNPrs104894375
ebirs104894375
HLIrs104894375
Exacrs104894375
Varsomers104894375
Maprs104894375
PheGenIrs104894375
hapmaprs104894375
1000 genomesrs104894375
hgdprs104894375
ensemblrs104894375
gopubmedrs104894375
geneviewrs104894375
scholarrs104894375
googlers104894375
pharmgkbrs104894375
gwascentralrs104894375
openSNPrs104894375
23andMers104894375
23andMe allrs104894375
SNP Nexus

SNPshotrs104894375
SNPdbers104894375
MSV3drs104894375
GWAS Ctlgrs104894375
Max Magnitude0
OMIM600370
Desc
Variant0001
Relatedalso
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
CLNACC RCV000009720.4,