rs121434396

Orientation

minus

Stabilized

minus

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

Make rs121434396(A;G)

Make rs121434396(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

171787637

Gene

SLC25A12

is a	snp
is	mentioned by
dbSNP	rs121434396
dbSNP (classic)	rs121434396
ClinGen	rs121434396
ebi	rs121434396
HLI	rs121434396
Exac	rs121434396
Gnomad	rs121434396
Varsome	rs121434396
LitVar	rs121434396
Map	rs121434396
PheGenI	rs121434396
Biobank	rs121434396
1000 genomes	rs121434396
hgdp	rs121434396
ensembl	rs121434396
geneview	rs121434396
scholar	rs121434396
google	rs121434396
pharmgkb	rs121434396
gwascentral	rs121434396
openSNP	rs121434396
23andMe	rs121434396
SNPshot	rs121434396
SNPdbe	rs121434396
MSV3d	rs121434396
GWAS Ctlg	rs121434396

Max Magnitude

0

OMIM	603667
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434396(G;G)
Alt	rs121434396(G;G)
Reference	Rs121434396(A;A)
Significance	Pathogenic
Disease	Hypomyelination
Variation	info
Gene	SLC25A12
CLNDBN	Hypomyelination, global cerebral
Reversed	1
HGVS	NC_000002.11:g.172644147T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006523.3,