rs398122942

Orientation

plus

Stabilized

plus

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

Make rs398122942(A;A)

Make rs398122942(A;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

185143484

Gene

SLC25A4

is a	snp
is	mentioned by
dbSNP	rs398122942
dbSNP (classic)	rs398122942
ClinGen	rs398122942
ebi	rs398122942
HLI	rs398122942
Exac	rs398122942
Gnomad	rs398122942
Varsome	rs398122942
LitVar	rs398122942
Map	rs398122942
PheGenI	rs398122942
Biobank	rs398122942
1000 genomes	rs398122942
hgdp	rs398122942
ensembl	rs398122942
geneview	rs398122942
scholar	rs398122942
google	rs398122942
pharmgkb	rs398122942
gwascentral	rs398122942
openSNP	rs398122942
23andMe	rs398122942
SNPshot	rs398122942
SNPdbe	rs398122942
MSV3d	rs398122942
GWAS Ctlg	rs398122942

Max Magnitude

0

ClinVar
Risk	rs398122942(A;A)
Alt	rs398122942(A;A)
Reference	Rs398122942(G;G)
Significance	Pathogenic
Disease	Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type)
Variation	info
Gene	SLC25A4
CLNDBN	Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive
Reversed	0
HGVS	NC_000004.11:g.186064638G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000056253.29,