rs121912683

Orientation

plus

Stabilized

plus

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

Make rs121912683(A;A)

Make rs121912683(A;C)

Reference

GRCh38 38.1/141

Chromosome

4

Position

185145020

Gene

SLC25A4

is a	snp
is	mentioned by
dbSNP	rs121912683
dbSNP (classic)	rs121912683
ClinGen	rs121912683
ebi	rs121912683
HLI	rs121912683
Exac	rs121912683
Gnomad	rs121912683
Varsome	rs121912683
LitVar	rs121912683
Map	rs121912683
PheGenI	rs121912683
Biobank	rs121912683
1000 genomes	rs121912683
hgdp	rs121912683
ensembl	rs121912683
geneview	rs121912683
scholar	rs121912683
google	rs121912683
pharmgkb	rs121912683
gwascentral	rs121912683
openSNP	rs121912683
23andMe	rs121912683
SNPshot	rs121912683
SNPdbe	rs121912683
MSV3d	rs121912683
GWAS Ctlg	rs121912683

Max Magnitude

0

OMIM	103220
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121912683(A;A)
Alt	rs121912683(A;A)
Reference	Rs121912683(C;C)
Significance	Pathogenic
Disease	Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type) not provided
Variation	info
Gene	SLC25A4
CLNDBN	Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive not provided
Reversed	0
HGVS	NC_000004.11:g.186066174C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019911.29, RCV000414338.1,