rs869312029

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	3	carrier of one allele for a sideroblastic anemia disorder
(G;G)	0	common/normal

Make rs869312029(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

3

Position

39391440

Gene

SLC25A38

is a	snp
is	mentioned by
dbSNP	rs869312029
dbSNP (classic)	rs869312029
ClinGen	rs869312029
ebi	rs869312029
HLI	rs869312029
Exac	rs869312029
Gnomad	rs869312029
Varsome	rs869312029
LitVar	rs869312029
Map	rs869312029
PheGenI	rs869312029
Biobank	rs869312029
1000 genomes	rs869312029
hgdp	rs869312029
ensembl	rs869312029
geneview	rs869312029
scholar	rs869312029
google	rs869312029
pharmgkb	rs869312029
gwascentral	rs869312029
openSNP	rs869312029
23andMe	rs869312029
SNPshot	rs869312029
SNPdbe	rs869312029
MSV3d	rs869312029
GWAS Ctlg	rs869312029

Max Magnitude

3

aka c.277-1G>A

reported in ClinVar as pathogenic for anemia, sideroblastic, pyridoxine-refractory (an autosomal recessive condition)

ClinVar
Risk	rs869312029(A;A)
Alt	rs869312029(A;A)
Reference	Rs869312029(G;G)
Significance	Pathogenic
Disease	Anemia
Variation	info
Gene	SLC25A38
CLNDBN	Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
Reversed	0
HGVS	NC_000003.11:g.39432931G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001180.3,